A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593429



Internal ID16380838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2536068..2548745hg38UCSC Ensembl
Innerchr4:2537795..2550472hg19UCSC Ensembl
Innerchr4:2507593..2520270hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3812678
hg1912678
hg1812678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989103
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593429
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