A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975191



Internal ID18263713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60756062..60764553hg38UCSC Ensembl
Innerchr11:60523535..60532026hg19UCSC Ensembl
Innerchr11:60280111..60288602hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg388492
hg198492
hg188492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1892120, nssv1892119, nssv1892111, nssv1892117, nssv1892113, nssv1892114, nssv1892115, nssv1892118, nssv1892112, nssv1892116
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMS4A15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975191
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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