A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515735



Internal ID8410010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20857114..21267778hg38UCSC Ensembl
Innerchr12:21010048..21420712hg19UCSC Ensembl
Innerchr12:20901315..21311979hg18UCSC Ensembl
Innerchr12:20901315..21311979hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38410665
hg19410665
hg18410665
hg17410665
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv690340, nssv686379, nssv701692, nssv655605, nssv661924, nssv664627, nssv702776, nssv657684
Samples
Known GenesSLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515735
Frequency
Sample Size2026
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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