A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612339



Internal ID16053062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:135457294..135457845hg38UCSC Ensembl
Innerchr8:136469537..136470088hg19UCSC Ensembl
Innerchr8:136538719..136539270hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38552
hg19552
hg18552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121528
Samples
Known GenesKHDRBS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612339
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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