A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695812



Internal ID15432464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223445425..223471914hg38UCSC Ensembl
Innerchr1:223618767..223645256hg19UCSC Ensembl
Innerchr1:221685390..221711879hg18UCSC Ensembl
Innerchr1:219990546..220017035hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3826490
hg1926490
hg1826490
hg1726490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518381
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695812
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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