A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612338



Internal ID16053061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:135457139..135459385hg38UCSC Ensembl
Innerchr8:136469382..136471628hg19UCSC Ensembl
Innerchr8:136538564..136540810hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg382247
hg192247
hg182247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121527
Samples
Known GenesKHDRBS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612338
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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