A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972074



Internal ID18607290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117335654..117336894hg38UCSC Ensembl
Innerchr11:117206370..117207610hg19UCSC Ensembl
Innerchr11:116711580..116712820hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381241
hg191241
hg181241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1905773, nssv1905772, nssv1905775, nssv1905770, nssv1905777, nssv1905769, nssv1905776, nssv1905771, nssv1905774, nssv1905778
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEP164
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972074
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