A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599707



Internal ID16387116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130539379..130696869hg38UCSC Ensembl
Innerchr5:129875072..130032562hg19UCSC Ensembl
Innerchr5:129902971..130060461hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38157491
hg19157491
hg18157491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032509
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599707
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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