A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983849



Internal ID18272355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90260950..90264506hg38UCSC Ensembl
Innerchr14:90727294..90730850hg19UCSC Ensembl
Innerchr14:89797047..89800603hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg383557
hg193557
hg183557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1994255, nssv1994257, nssv1994250, nssv1994249, nssv1994254, nssv1994251, nssv1994253, nssv1994248, nssv1994252, nssv1994256
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)nsv983849
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