A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964633



Internal ID18253184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39521541..39522859hg38UCSC Ensembl
Innerchr22:39917546..39918864hg19UCSC Ensembl
Innerchr22:38247492..38248810hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381319
hg191319
hg181319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2266936, nssv2266934, nssv2266940, nssv2266939, nssv2266941, nssv2266933, nssv2266935, nssv2266938, nssv2266937, nssv2266932
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesATF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964633
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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