A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964637



Internal ID18599874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42046197..42052067hg38UCSC Ensembl
Innerchr22:42442201..42448071hg19UCSC Ensembl
Innerchr22:40772147..40778017hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385871
hg195871
hg185871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2269471, nssv2269469, nssv2269464, nssv2269465, nssv2269467, nssv2269470, nssv2269468, nssv2269472, nssv2269466, nssv2269473
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)nsv964637
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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