A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598288



Internal ID16039011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60331728..60707633hg38UCSC Ensembl
Innerchr5:59627555..60003460hg19UCSC Ensembl
Innerchr5:59663312..60039217hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38375906
hg19375906
hg18375906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033478
Samples
Known GenesDEPDC1B, PART1, PDE4D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598288
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