A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598404



Internal ID16039127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65926200..65943640hg38UCSC Ensembl
Innerchr5:65222028..65239468hg19UCSC Ensembl
Innerchr5:65257784..65275224hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3817441
hg1917441
hg1817441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034604
Samples
Known GenesERBB2IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598404
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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