A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974362



Internal ID18609573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90267868..90269651hg38UCSC Ensembl
Innerchr14:90734212..90735995hg19UCSC Ensembl
Innerchr14:89803965..89805748hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg381784
hg191784
hg181784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1994348, nssv1994351, nssv1994352, nssv1994354, nssv1994349, nssv1994346, nssv1994347, nssv1994353, nssv1994345, nssv1994350
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSMC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974362
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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