A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964639



Internal ID18599876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44867643..44869427hg38UCSC Ensembl
Innerchr22:45263523..45265307hg19UCSC Ensembl
Innerchr22:43642187..43643971hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381785
hg191785
hg181785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2271148, nssv2271142, nssv2271150, nssv2271151, nssv2271145, nssv2271147, nssv2271149, nssv2271143, nssv2271144, nssv2271146
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)nsv964639
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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