A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569242



Internal ID16009965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:42917832..43153107hg38UCSC Ensembl
Innerchr15:43210030..43445305hg19UCSC Ensembl
Innerchr15:40997322..41232597hg18UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38235276
hg19235276
hg18235276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4500n54
Supporting Variantsnssv842233, nssv842231, nssv842232
Samples
Known GenesTMEM62, TTBK2, UBR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569242
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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