A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520031



Internal ID15100638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4687677..4690970hg38UCSC Ensembl
Innerchr1:4747737..4751030hg19UCSC Ensembl
Innerchr1:4647597..4650890hg18UCSC Ensembl
Innerchr1:4658110..4661403hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg383294
hg193294
hg183294
hg173294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv660165, nssv683157, nssv701964
Samples
Known GenesAJAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520031
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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