A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700713



Internal ID15437365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75248133..75315259hg38UCSC Ensembl
Innerchr8:76160368..76227494hg19UCSC Ensembl
Innerchr8:76322923..76390049hg18UCSC Ensembl
Innerchr8:76322923..76390049hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3867127
hg1967127
hg1867127
hg1767127
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524725
Supporting Variants
Samples
Known GenesCASC9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700713
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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