A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966082



Internal ID18601312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21544639..21564488hg38UCSC Ensembl
Innerchr22:21898928..21918777hg19UCSC Ensembl
Innerchr22:20228928..20248777hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819850
hg1919850
hg1819850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2257756, nssv2257755, nssv2257751, nssv2257757, nssv2257750, nssv2257758, nssv2257754, nssv2257753, nssv2257749, nssv2257752
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRIMBP3B, RIMBP3C, UBE2L3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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