A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520817



Internal ID15448110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106034533..106277176hg38UCSC Ensembl
Innerchr1:106577155..106819798hg19UCSC Ensembl
Innerchr1:106378678..106621321hg18UCSC Ensembl
Innerchr1:106289197..106531840hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38242644
hg19242644
hg18242644
hg17242644
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675754, nssv697787, nssv704239, nssv678498, nssv701078
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520817
Frequency
Sample Size2026
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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