A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000589



Internal ID18743120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..141772hg38UCSC Ensembl
Innerchr4:12269..135554hg19UCSC Ensembl
Innerchr4:2269..125554hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38129504
hg19123286
hg18123286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5059n100
Supporting Variantsnssv3615214
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000589
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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