A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153958



Internal ID15876076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84994664..86364007hg38UCSC Ensembl
Innerchr5:84290482..85659825hg19UCSC Ensembl
Innerchr5:84326238..85695581hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381369344
hg191369344
hg181369344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598822
Supporting Variants
SamplesHGDP00781
Known GenesNBPF22P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153958
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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