A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523290



Internal ID15450583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99696367..99705697hg38UCSC Ensembl
Innerchr8:100708595..100717925hg19UCSC Ensembl
Innerchr8:100777771..100787101hg18UCSC Ensembl
Innerchr8:100777771..100787101hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg389331
hg199331
hg189331
hg179331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699030
Samples
Known GenesVPS13B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523290
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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