A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964638



Internal ID18599875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43797240..43803501hg38UCSC Ensembl
Innerchr22:44193120..44199381hg19UCSC Ensembl
Innerchr22:42524453..42530714hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386262
hg196262
hg186262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2270060, nssv2270061, nssv2270057, nssv2270062, nssv2270063, nssv2270064, nssv2270065, nssv2270058, nssv2270056, nssv2270059
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEFCAB6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964638
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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