A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593299



Internal ID16380708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1261142..1318606hg38UCSC Ensembl
Innerchr4:1254930..1312394hg19UCSC Ensembl
Innerchr4:1244930..1302394hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3857465
hg1957465
hg1857465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153433
SamplesHGDP01303
Known GenesMAEA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593299
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