Product Details

Assay Reference Genome
Location

Chr.11:1995149 on build GRCh38
Cytoband
11p15.5
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
283120
Gene Symbol
H19
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 Location Protein ID
H19 NR_002196.2
NR_131223.1
NR_131224.1
AK056774.1
AK092486.1
AK123560.1
AK311497.1
Entrez Gene ID
103344718
Gene Symbol
HOTS
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 Location Protein ID
HOTS NM_001293171.2 1 2742 NP_001280100.1
AA401903.1
Entrez Gene ID
6150
Gene Symbol
MRPL23
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 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 Chr11:1835882 - 1996938 on Build GRCh38 Loss MIR4298 LSP1 MRPL23 MIR675 TNNI2 SNORD131 HOTS LINC01150 MIR7847 TNNT3 MRPL23-AS1 LINC01219 SYT8 H19
nsv1047474 Chr11:1803515 - 2043381 on Build GRCh38 Gain MIR4298 LSP1 MRPL23 MIR675 TNNI2 SNORD131 HOTS LINC01150 MIR7847 TNNT3 MRPL23-AS1 LINC01219 SYT8 H19
dgv1016n100 Chr11:1946041 - 2043381 on Build GRCh38 Gain MRPL23-AS1 MRPL23 LINC01219 H19 MIR675 SNORD131 HOTS
nsv553064 Chr11:1943082 - 2001669 on Build GRCh38 Loss MRPL23-AS1 MRPL23 LINC01219 H19 MIR675 SNORD131 HOTS
nsv469926 Chr11:1813024 - 2036416 on Build GRCh38 Loss MIR4298 LSP1 MRPL23 MIR675 TNNI2 SNORD131 HOTS LINC01150 MIR7847 TNNT3 MRPL23-AS1 LINC01219 SYT8 H19
nsv951283 Chr11:1913571 - 2040070 on Build GRCh38 Deletion MRPL23-AS1 MRPL23 LINC01219 H19 MIR675 SNORD131 HOTS TNNT3
esv29980 Chr11:1820597 - 2097889 on Build GRCh38 Loss MIR4298 LSP1 MRPL23 MIR675 TNNI2 SNORD131 HOTS LINC01150 MIR7847 TNNT3 MRPL23-AS1 LINC01219 SYT8 H19
nsv553047 Chr11:1733170 - 2418537 on Build GRCh38 Gain MIR4298 INS-IGF2 CD81 IGF2 MIR675 SNORD131 HOTS LINC01150 C11orf21 TH TNNT3 MRPL23-AS1 CTSD CD81-AS1 TRPM5 LSP1 MRPL23 INS IGF2-AS TNNI2 MIR483 ASCL2 MIR7847 TSSC4 LINC01219 MIR4686 SYT8 H19 TSPAN32 IFITM10

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