A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599697



Internal ID16040420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128227871..128395517hg38UCSC Ensembl
Innerchr5:127563563..127731210hg19UCSC Ensembl
Innerchr5:127591462..127759109hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38167647
hg19167648
hg18167648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032498
Samples
Known GenesFBN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599697
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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