A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600453



Internal ID16387862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178825365..178832786hg38UCSC Ensembl
Innerchr5:178252366..178259787hg19UCSC Ensembl
Innerchr5:178184972..178192393hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387422
hg197422
hg187422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1046097
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600453
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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