A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599201



Internal ID16386610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104070979..104198183hg38UCSC Ensembl
Innerchr5:103406680..103533884hg19UCSC Ensembl
Innerchr5:103434579..103561783hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38127205
hg19127205
hg18127205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039636
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599201
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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