A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683157



Internal ID15073123
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520031
Supporting Variants
Samples
Known GenesAJAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683157
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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