A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150456



Internal ID15529610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57206977..58550034hg38UCSC Ensembl
Innerchr2:57434112..58777169hg19UCSC Ensembl
Innerchr2:57287616..58630673hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381343058
hg191343058
hg181343058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582086
Supporting Variants
SamplesHGDP00817
Known GenesFANCL, LINC01122, VRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150456
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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