A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686379



Internal ID15076345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20857114..21251898hg38UCSC Ensembl
Innerchr12:21010048..21404832hg19UCSC Ensembl
Innerchr12:20901315..21296099hg18UCSC Ensembl
Innerchr12:20901315..21296099hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38394785
hg19394785
hg18394785
hg17394785
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515735
Supporting Variants
Samples
Known GenesSLCO1B1, SLCO1B3, SLCO1B7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686379
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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