A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593746



Internal ID16381155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12359578..12382323hg38UCSC Ensembl
Innerchr4:12361202..12383947hg19UCSC Ensembl
Innerchr4:11970300..11993045hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3822746
hg1922746
hg1822746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8974n54
Supporting Variantsnssv993072, nssv1153445, nssv1153444
SamplesHGDP00724, HGDP00914
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593746
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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