A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050460



Internal ID18792991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881449..20957189hg38UCSC Ensembl
Innerchr14:21349608..21425348hg19UCSC Ensembl
Innerchr14:20419448..20495188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3875741
hg1975741
hg1875741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1800n100
Supporting Variantsnssv3530767, nssv3712143, nssv3530766
Samples
Known GenesECRP, RNASE2, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050460
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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