A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948128



Internal ID18248288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:87965292..87966480hg38UCSC Ensembl
Innerchr10:89725049..89726237hg19UCSC Ensembl
Innerchr10:89715029..89716217hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg381189
hg191189
hg181189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1860734, nssv1860735, nssv1860732, nssv1860729, nssv1860727, nssv1860731, nssv1860730, nssv1860728, nssv1860736, nssv1860733
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTEN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948128
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