A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975993



Internal ID18611200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124264837..124265945hg38UCSC Ensembl
Innerchr11:124134733..124135841hg19UCSC Ensembl
Innerchr11:123639943..123641051hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381109
hg191109
hg181109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1907718, nssv1907715, nssv1907723, nssv1907720, nssv1907719, nssv1907717, nssv1907722, nssv1907714, nssv1907721, nssv1907716
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR8G1, OR8G5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975993
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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