A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599795



Internal ID16387204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135782400..135793691hg38UCSC Ensembl
Innerchr5:135118089..135129380hg19UCSC Ensembl
Innerchr5:135145988..135157279hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3811292
hg1911292
hg1811292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042048
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599795
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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