A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705258



Internal ID15441910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:120007498..120011728hg38UCSC Ensembl
Innerchr8:121019737..121023967hg19UCSC Ensembl
Innerchr8:121088918..121093148hg18UCSC Ensembl
Innerchr8:121088918..121093148hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384231
hg194231
hg184231
hg174231
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528628
Supporting Variants
Samples
Known GenesDEPTOR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705258
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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