A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526010



Internal ID15106617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240776888..240790576hg38UCSC Ensembl
Innerchr2:241716305..241729993hg19UCSC Ensembl
Innerchr2:241364978..241378666hg18UCSC Ensembl
Innerchr2:241436295..241449983hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3813689
hg1913689
hg1813689
hg1713689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702238
Samples
Known GenesKIF1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526010
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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