A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966106



Internal ID18254650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35882897..35887028hg38UCSC Ensembl
Innerchr22:36278944..36283075hg19UCSC Ensembl
Innerchr22:34608890..34613021hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384132
hg194132
hg184132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2266041, nssv2266044, nssv2266037, nssv2689754, nssv2689737, nssv2689744, nssv2689740, nssv2266040, nssv2689741, nssv2689752, nssv2689738, nssv2689743, nssv2266045, nssv2266042, nssv2689746, nssv2266039, nssv2689749, nssv2689745, nssv2689742, nssv2266038, nssv2689755, nssv2689756, nssv2689750, nssv2689751, nssv2689739, nssv2266046, nssv2689753, nssv2266043, nssv2689747, nssv2689748
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRBFOX2
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966106
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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