A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696800



Internal ID15433452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191512302..191608262hg38UCSC Ensembl
Innerchr1:191481432..191577392hg19UCSC Ensembl
Innerchr1:189748055..189844015hg18UCSC Ensembl
Innerchr1:188213089..188309049hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3895961
hg1995961
hg1895961
hg1795961
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519339
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696800
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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