A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966117



Internal ID18601347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50785866..50802734hg38UCSC Ensembl
Innerchr22:51224294..51241162hg19UCSC Ensembl
Innerchr22:49571160..49588028hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3816869
hg1916869
hg1816869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2272211, nssv2272212, nssv2272218, nssv2272214, nssv2272216, nssv2272220, nssv2272217, nssv2272213, nssv2272215, nssv2272219
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL23AP82
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966117
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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