Hs03792623_cn

• Gene Symbol: H19
• Assay Reference Genome Location: Chr.11:1997058 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
H19	NR_002196.2	1	818
	NR_131223.1	1	818
	NR_131224.1
	AK056774.1	2	562
	AK092486.1
	AK311497.1
	AL546946.3	1	778
	AL548405.3	1	778
	CN424819.1

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

More Information

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