A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612337



Internal ID16053060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:135457139..135458001hg38UCSC Ensembl
Innerchr8:136469382..136470244hg19UCSC Ensembl
Innerchr8:136538564..136539426hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38863
hg19863
hg18863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121526
Samples
Known GenesKHDRBS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612337
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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