A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516599



Internal ID15443892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:66511762..66519871hg38UCSC Ensembl
Innerchr8:67423997..67432106hg19UCSC Ensembl
Innerchr8:67586551..67594660hg18UCSC Ensembl
Innerchr8:67586551..67594660hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg388110
hg198110
hg188110
hg178110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684979, nssv670792, nssv674761, nssv676705, nssv669463, nssv661163, nssv670085, nssv672649
Samples
Known GenesC8orf46
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516599
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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