A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597379



Internal ID16384788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18798936..18867669hg38UCSC Ensembl
Innerchr5:18799045..18867778hg19UCSC Ensembl
Innerchr5:18834802..18903535hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3868734
hg1968734
hg1868734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152864
SamplesHGDP00169
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597379
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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