A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599708



Internal ID16387117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130696869..130851697hg38UCSC Ensembl
Innerchr5:130032562..130187390hg19UCSC Ensembl
Innerchr5:130060461..130215289hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38154829
hg19154829
hg18154829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032510
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599708
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer