A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3591639



Internal ID18543234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5199047..5421695hg38UCSC Ensembl
Innerchr3:5240732..5463381hg19UCSC Ensembl
Innerchr3:5215732..5438381hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38222649
hg19222650
hg18222650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008146
Supporting Variants
Samples
Known GenesEDEM1, MIR4790
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3591639
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