A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964626



Internal ID18253177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35838341..35839305hg38UCSC Ensembl
Innerchr22:36234388..36235352hg19UCSC Ensembl
Innerchr22:34564334..34565298hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38965
hg19965
hg18965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2265969, nssv2265970, nssv2265967, nssv2265968, nssv2265962, nssv2265965, nssv2265964, nssv2265966, nssv2265971, nssv2265963
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRBFOX2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964626
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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