A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702776



Internal ID15092742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21188162..21240084hg38UCSC Ensembl
Innerchr12:21341096..21393018hg19UCSC Ensembl
Innerchr12:21232363..21284285hg18UCSC Ensembl
Innerchr12:21232363..21284285hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3851923
hg1951923
hg1851923
hg1751923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515735
Supporting Variants
Samples
Known GenesSLCO1B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702776
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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