A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598781



Internal ID16386190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83246570..83338132hg38UCSC Ensembl
Innerchr5:82542389..82633951hg19UCSC Ensembl
Innerchr5:82578145..82669707hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3891563
hg1991563
hg1891563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9906n54
Supporting Variantsnssv1035428
Samples
Known GenesXRCC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598781
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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