A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600446



Internal ID16387855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178684742..178693333hg38UCSC Ensembl
Innerchr5:178111743..178120334hg19UCSC Ensembl
Innerchr5:178044349..178052940hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388592
hg198592
hg188592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10198n54
Supporting Variantsnssv1046083
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600446
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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