A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657684



Internal ID15047650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21009309..21267778hg38UCSC Ensembl
Innerchr12:21162243..21420712hg19UCSC Ensembl
Innerchr12:21053510..21311979hg18UCSC Ensembl
Innerchr12:21053510..21311979hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38258470
hg19258470
hg18258470
hg17258470
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515735
Supporting Variants
Samples
Known GenesSLCO1A2, SLCO1B1, SLCO1B7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657684
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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