A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597791



Internal ID16385200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33922453..33944112hg38UCSC Ensembl
Innerchr5:33922558..33944217hg19UCSC Ensembl
Innerchr5:33958315..33979974hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3821660
hg1921660
hg1821660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153340
Samples1780854206_A
Known GenesRXFP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597791
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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