A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599719



Internal ID16387128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133798325..133800650hg38UCSC Ensembl
Innerchr5:133134016..133136341hg19UCSC Ensembl
Innerchr5:133161915..133164240hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382326
hg192326
hg182326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032517
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599719
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