A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153347



Internal ID15527213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60833534..61033797hg38UCSC Ensembl
Innerchr5:60129361..60329624hg19UCSC Ensembl
Innerchr5:60165118..60365381hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38200264
hg19200264
hg18200264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598308
Supporting Variants
SamplesHGDP00428
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153347
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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