A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598391



Internal ID16385800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65917238..65926565hg38UCSC Ensembl
Innerchr5:65213066..65222393hg19UCSC Ensembl
Innerchr5:65248822..65258149hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg389328
hg199328
hg189328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9825n54
Supporting Variantsnssv1034586
Samples
Known GenesERBB2IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598391
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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