A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598309



Internal ID16039032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60840158..60971048hg38UCSC Ensembl
Innerchr5:60135985..60266875hg19UCSC Ensembl
Innerchr5:60171742..60302632hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38130891
hg19130891
hg18130891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9811n54
Supporting Variantsnssv1153348
SamplesHGDP00565
Known GenesELOVL7, ERCC8, NDUFAF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598309
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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