A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523687



Internal ID15450980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240201779..240215009hg38UCSC Ensembl
Innerchr2:241141196..241154426hg19UCSC Ensembl
Innerchr2:240789869..240803099hg18UCSC Ensembl
Innerchr2:240861186..240874416hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3813231
hg1913231
hg1813231
hg1713231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699493
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523687
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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