A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966105



Internal ID18601335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32190542..32194436hg38UCSC Ensembl
Innerchr22:32586529..32590423hg19UCSC Ensembl
Innerchr22:30916529..30920423hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383895
hg193895
hg183895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2266545, nssv2266553, nssv2266550, nssv2266549, nssv2266552, nssv2266546, nssv2266547, nssv2266551, nssv2266544, nssv2266548
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRFPL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966105
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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