A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975985



Internal ID18611192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120616872..120621523hg38UCSC Ensembl
Innerchr11:120487581..120492232hg19UCSC Ensembl
Innerchr11:119992791..119997442hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384652
hg194652
hg184652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1906581, nssv1906586, nssv1906588, nssv1906579, nssv1906585, nssv1906582, nssv1906583, nssv1906584, nssv1906580, nssv1906587
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGRIK4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975985
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