A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021387



Internal ID18763921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169562911..169636760hg38UCSC Ensembl
Innerchr4:170484062..170557911hg19UCSC Ensembl
Innerchr4:170720637..170794486hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg3873850
hg1973850
hg1873850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5468n100
Supporting Variantsnssv3635381
Samples
Known GenesCLCN3, NEK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021387
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