A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964620



Internal ID18253171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31056995..31069154hg38UCSC Ensembl
Innerchr22:31452981..31465140hg19UCSC Ensembl
Innerchr22:29782981..29795140hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3812160
hg1912160
hg1812160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2265509, nssv2265508, nssv2265512, nssv2265505, nssv2265507, nssv2265510, nssv2265504, nssv2265511, nssv2265506, nssv2265513
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964620
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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