A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521989



Internal ID15449282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236799844..236805543hg38UCSC Ensembl
Innerchr2:237708487..237714186hg19UCSC Ensembl
Innerchr2:237373226..237378925hg18UCSC Ensembl
Innerchr2:237490487..237496186hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385700
hg195700
hg185700
hg175700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694756
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521989
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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