A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611812



Internal ID16399221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99220144..99452443hg38UCSC Ensembl
Innerchr8:100232372..100464671hg19UCSC Ensembl
Innerchr8:100301548..100533847hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38232300
hg19232300
hg18232300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1118159
Samples
Known GenesVPS13B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611812
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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