A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518321



Internal ID15445614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:221879892..221882061hg38UCSC Ensembl
Innerchr1:222053234..222055403hg19UCSC Ensembl
Innerchr1:220119857..220122026hg18UCSC Ensembl
Innerchr1:218441629..218443798hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382170
hg192170
hg182170
hg172170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695751
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518321
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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