A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1121525



Internal ID15628025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:135449991..135459385hg38UCSC Ensembl
Innerchr8:136462234..136471628hg19UCSC Ensembl
Innerchr8:136531416..136540810hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg389395
hg199395
hg189395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612336
Supporting Variants
Samples
Known GenesKHDRBS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1121525
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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