A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599295



Internal ID16386704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106613714..106663495hg38UCSC Ensembl
Innerchr5:105949415..105999196hg19UCSC Ensembl
Innerchr5:105977314..106027095hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3849782
hg1949782
hg1849782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153572
Samples1780862459_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599295
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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