A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701692



Internal ID15091658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20861335..20918325hg38UCSC Ensembl
Innerchr12:21014269..21071259hg19UCSC Ensembl
Innerchr12:20905536..20962526hg18UCSC Ensembl
Innerchr12:20905536..20962526hg17UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3856991
hg1956991
hg1856991
hg1756991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515735
Supporting Variants
Samples
Known GenesSLCO1B3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701692
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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