A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599712



Internal ID16387121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131838522..131901906hg38UCSC Ensembl
Innerchr5:131174215..131237599hg19UCSC Ensembl
Innerchr5:131202114..131265498hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3863385
hg1963385
hg1863385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032513
Samples
Known GenesLOC728637
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599712
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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