A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593344



Internal ID16034067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1870601..1872274hg38UCSC Ensembl
Innerchr4:1872328..1874001hg19UCSC Ensembl
Innerchr4:1842126..1843799hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381674
hg191674
hg181674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8903n54
Supporting Variantsnssv988456, nssv988457, nssv988455
Samples
Known GenesWHSC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593344
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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