A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683011



Internal ID15419663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2187566..2219871hg38UCSC Ensembl
Innerchr8:2135762..2167540hg19UCSC Ensembl
Innerchr8:2123169..2154947hg18UCSC Ensembl
Innerchr8:2123169..2154947hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3832306
hg1931779
hg1831779
hg1731779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515930
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683011
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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