A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597759



Internal ID16385168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29789124..29794130hg38UCSC Ensembl
Innerchr5:29789231..29794237hg19UCSC Ensembl
Innerchr5:29824988..29829994hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385007
hg195007
hg185007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153312
SamplesHGDP01033
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597759
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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