A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1045663



Internal ID15552163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173907789..173995379hg38UCSC Ensembl
Innerchr5:173334792..173422382hg19UCSC Ensembl
Innerchr5:173267398..173354988hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3887591
hg1987591
hg1887591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600323
Supporting Variants
Samples
Known GenesC5orf47, CPEB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1045663
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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