A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598780



Internal ID16386189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83218709..83321936hg38UCSC Ensembl
Innerchr5:82514528..82617755hg19UCSC Ensembl
Innerchr5:82550284..82653511hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38103228
hg19103228
hg18103228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035427, nssv1035426
Samples
Known GenesXRCC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598780
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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