A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593459



Internal ID16380868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3484059..3520956hg38UCSC Ensembl
Innerchr4:3485786..3522683hg19UCSC Ensembl
Innerchr4:3455584..3492481hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3836898
hg1936898
hg1836898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152582
SamplesHGDP00461
Known GenesDOK7, LRPAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593459
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