A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599436



Internal ID16386845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114648545..114739888hg38UCSC Ensembl
Innerchr5:113984242..114075585hg19UCSC Ensembl
Innerchr5:114012141..114103484hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3891344
hg1991344
hg1891344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040459
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599436
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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