A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695683



Internal ID15432335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103666012..103668053hg38UCSC Ensembl
Innerchr12:104059790..104061831hg19UCSC Ensembl
Innerchr12:102583920..102585961hg18UCSC Ensembl
Innerchr12:102562257..102564298hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382042
hg192042
hg182042
hg172042
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518252
Supporting Variants
Samples
Known GenesSTAB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695683
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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