A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964602



Internal ID18599839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23306895..23310324hg38UCSC Ensembl
Innerchr22:23649082..23652511hg19UCSC Ensembl
Innerchr22:21979082..21982511hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg383430
hg193430
hg183430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2259303, nssv2259299, nssv2259302, nssv2259301, nssv2259298, nssv2259300, nssv2259297, nssv2259296, nssv2259294, nssv2259295
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBCR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964602
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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