A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599715



Internal ID16387124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133128857..133152975hg38UCSC Ensembl
Innerchr5:132464549..132488667hg19UCSC Ensembl
Innerchr5:132492448..132516566hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3824119
hg1924119
hg1824119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154002
SamplesHGDP01359
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599715
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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