A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593274



Internal ID16033997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1095704..1096536hg38UCSC Ensembl
Innerchr4:1089492..1090324hg19UCSC Ensembl
Innerchr4:1079492..1080324hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38833
hg19833
hg18833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8889n54
Supporting Variantsnssv987659, nssv987661, nssv987660, nssv987658
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593274
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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