A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584696



Internal ID16025419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232775199..232849976hg38UCSC Ensembl
Innerchr2:233639909..233714686hg19UCSC Ensembl
Innerchr2:233348153..233422930hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3874778
hg1974778
hg1874778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150763
Samples1780862466_A
Known GenesGIGYF2, KCNJ13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584696
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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