A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975230



Internal ID18610438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117136463..117139762hg38UCSC Ensembl
Innerchr11:117007179..117010478hg19UCSC Ensembl
Innerchr11:116512389..116515688hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383300
hg193300
hg183300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1905357, nssv1905363, nssv1905362, nssv1905364, nssv1905356, nssv1905355, nssv1905358, nssv1905359, nssv1905360, nssv1905361
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975230
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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