A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597792



Internal ID16038515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33922453..33977730hg38UCSC Ensembl
Innerchr5:33922558..33977835hg19UCSC Ensembl
Innerchr5:33958315..34013592hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3855278
hg1955278
hg1855278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028921
Samples
Known GenesRXFP3, SLC45A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597792
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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