A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153948



Internal ID15875485
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 StatusS
Merged Variantsnsv598782
Supporting Variants
SamplesHGDP00689
Known GenesXRCC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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