Hs03775914_cn

• Gene Symbol: H19
• Assay Reference Genome Location: Chr.11:1996138 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 283120
• Gene Name: H19, imprinted maternally expressed transcript (non-protein coding)
• Gene Aliases: ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, WT2
• Location: Chr.11:1995176-2001466 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
H19	NR_002196.2
	NR_131223.1
	NR_131224.1
	AK056774.1
	AK092486.1
	AK123560.1
	AK311497.1
	BE730693.1
	CN424819.1

Target Gene Details

• Entrez Gene ID: 103344718
• Gene Name: H19 opposite tumor suppressor
• Gene Aliases: -
• Location: Chr.11:1992408-1996294 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HOTS	NM_001293171.2	1	3731	NP_001280100.1

Target Gene Details

• Entrez Gene ID: 6150
• Gene Name: mitochondrial ribosomal protein L23
• Gene Aliases: L23MRP, RPL23, RPL23L
• Location: Chr.11:1947272-2013176 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL23

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv522320	Chr.11:1835882 - 1996938 on Build GRCh38	Loss	HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
nsv1047474	Chr.11:1803515 - 2043381 on Build GRCh38	Gain	HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
dgv1016n100	Chr.11:1946041 - 2043381 on Build GRCh38	Gain	HOTS MRPL23 MIR675 LINC01219 SNORD131 H19 MRPL23-AS1
nsv553064	Chr.11:1943082 - 2001669 on Build GRCh38	Loss	HOTS MRPL23 MIR675 LINC01219 SNORD131 H19 MRPL23-AS1
nsv469926	Chr.11:1813024 - 2036416 on Build GRCh38	Loss	HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
nsv951283	Chr.11:1913571 - 2040070 on Build GRCh38	Deletion	HOTS MRPL23 TNNT3 MIR675 LINC01219 SNORD131 H19 MRPL23-AS1
esv29980	Chr.11:1820597 - 2097889 on Build GRCh38	Loss	HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
nsv553047	Chr.11:1733170 - 2418537 on Build GRCh38	Gain	C11orf21 HOTS IFITM10 MIR4686 MIR483 CTSD ASCL2 IGF2 MIR7847 CD81 CD81-AS1 MRPL23 TNNT3 MIR675 INS-IGF2 SNORD131 LSP1 MIR4298 IGF2-AS TSPAN32 TNNI2 TSSC4 SYT8 LINC01150 INS TRPM5 LINC01219 TH H19 MRPL23-AS1

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation