A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000694



Internal ID19089911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89324670..89403895hg38UCSC Ensembl
Innerchr3:89373820..89453045hg19UCSC Ensembl
Innerchr3:89456510..89535735hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3879226
hg1979226
hg1879226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4804n100
Supporting Variantsnssv3596286
Samples
Known GenesEPHA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000694
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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