A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034192



Internal ID15540692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60851927..61017188hg38UCSC Ensembl
Innerchr5:60147754..60313015hg19UCSC Ensembl
Innerchr5:60183511..60348772hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38165262
hg19165262
hg18165262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598312
Supporting Variants
Samples
Known GenesERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034192
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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