Hs03768123_cn

• Gene Symbol: H19
• Assay Reference Genome Location: Chr.11:1995149 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 - Exon 6

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

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	2742	NP_001280100.1
	AA401903.1

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
nsv1047474	Chr.11:1803515 - 2043381 on Build GRCh38	Gain	MRPL23-AS1 MRPL23 MIR675 LINC01150 SYT8 HOTS MIR4298 H19 TNNT3 SNORD131 LSP1 LINC01219 TNNI2 MIR7847
nsv522320	Chr.11:1835882 - 1996938 on Build GRCh38	Loss	MRPL23-AS1 MRPL23 MIR675 LINC01150 SYT8 HOTS MIR4298 H19 TNNT3 SNORD131 LSP1 LINC01219 TNNI2 MIR7847
dgv1015n100	Chr.11:1946041 - 2008048 on Build GRCh38	Gain	MRPL23-AS1 SNORD131 MRPL23 MIR675 LINC01219 HOTS H19
nsv553064	Chr.11:1943082 - 2001669 on Build GRCh38	Loss	MRPL23-AS1 SNORD131 MRPL23 MIR675 LINC01219 HOTS H19
nsv469926	Chr.11:1813024 - 2036416 on Build GRCh38	Loss	MRPL23-AS1 MRPL23 MIR675 LINC01150 SYT8 HOTS MIR4298 H19 TNNT3 SNORD131 LSP1 LINC01219 TNNI2 MIR7847
nsv951283	Chr.11:1913571 - 2040070 on Build GRCh38	Deletion	MRPL23-AS1 TNNT3 SNORD131 MRPL23 MIR675 LINC01219 HOTS H19
esv29980	Chr.11:1820597 - 2097889 on Build GRCh38	Loss	MRPL23-AS1 MRPL23 MIR675 LINC01150 SYT8 HOTS MIR4298 H19 TNNT3 SNORD131 LSP1 LINC01219 TNNI2 MIR7847
nsv467645	Chr.11:1733170 - 2418537 on Build GRCh38	Gain	CD81-AS1 TH TSPAN32 INS TRPM5 IGF2 MIR4298 TNNT3 C11orf21 SNORD131 TSSC4 ASCL2 LSP1 TNNI2 CD81 INS-IGF2 CTSD MRPL23-AS1 IFITM10 MIR483 MRPL23 MIR675 LINC01150 SYT8 HOTS H19 LINC01219 IGF2-AS MIR4686 MIR7847

More Information

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