A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569232



Internal ID16356641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:41402179..41438048hg38UCSC Ensembl
Innerchr15:41694377..41730246hg19UCSC Ensembl
Innerchr15:39481669..39517538hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3835870
hg1935870
hg1835870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv842223
Samples
Known GenesNDUFAF1, RTF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569232
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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