A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598782



Internal ID16386191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83248972..83336910hg38UCSC Ensembl
Innerchr5:82544791..82632729hg19UCSC Ensembl
Innerchr5:82580547..82668485hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3887939
hg1987939
hg1887939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9906n54
Supporting Variantsnssv1153947, nssv1153946, nssv1153948
SamplesHGDP00597, HGDP00689, HGDP00583
Known GenesXRCC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598782
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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