A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694080



Internal ID15430732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:60145357..60162774hg38UCSC Ensembl
Innerchr1:60611029..60628446hg19UCSC Ensembl
Innerchr1:60383617..60401034hg18UCSC Ensembl
Innerchr1:60323050..60340467hg17UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3817418
hg1917418
hg1817418
hg1717418
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520494
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694080
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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