A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598747



Internal ID16039470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80700813..81026893hg38UCSC Ensembl
Innerchr5:79996632..80322712hg19UCSC Ensembl
Innerchr5:80032388..80358468hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38326081
hg19326081
hg18326081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035306
Samples
Known GenesLOC102524628, MSH3, RASGRF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598747
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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