A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598308



Internal ID16039031
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 StatusM
Merged Variants
Supporting Variantsnssv1153347
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)nsv598308
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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