A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975992



Internal ID18611199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124249768..124250268hg38UCSC Ensembl
Innerchr11:124120515..124121015hg19UCSC Ensembl
Innerchr11:123625725..123626225hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1907640, nssv1907635, nssv1907634, nssv1907643, nssv1907637, nssv1907641, nssv1907642, nssv1907639, nssv1907636, nssv1907638
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR8G1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975992
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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