A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034187



Internal ID15540687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60833534..61013009hg38UCSC Ensembl
Innerchr5:60129361..60308836hg19UCSC Ensembl
Innerchr5:60165118..60344593hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38179476
hg19179476
hg18179476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598307
Supporting Variants
Samples
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034187
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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