A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599734



Internal ID16387143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134537014..134570139hg38UCSC Ensembl
Innerchr5:133872704..133905829hg19UCSC Ensembl
Innerchr5:133900603..133933728hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3833126
hg1933126
hg1833126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154004
Samples1780862448_A
Known GenesJADE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599734
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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