A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523564



Internal ID15450857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125481474..125493006hg38UCSC Ensembl
Innerchr2:126239051..126250583hg19UCSC Ensembl
Innerchr2:125955521..125967053hg18UCSC Ensembl
Innerchr2:125955281..125966813hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3811533
hg1911533
hg1811533
hg1711533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699345
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523564
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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