A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655605



Internal ID15045571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21009309..21226698hg38UCSC Ensembl
Innerchr12:21162243..21379632hg19UCSC Ensembl
Innerchr12:21053510..21270899hg18UCSC Ensembl
Innerchr12:21053510..21270899hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38217390
hg19217390
hg18217390
hg17217390
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515735
Supporting Variants
Samples
Known GenesSLCO1B1, SLCO1B7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv655605
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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