A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593354



Internal ID16034077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1870705..1872507hg38UCSC Ensembl
Innerchr4:1872432..1874234hg19UCSC Ensembl
Innerchr4:1842230..1844032hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381803
hg191803
hg181803
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8904n54
Supporting Variantsnssv988481, nssv988482
Samples
Known GenesWHSC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593354
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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