A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966111



Internal ID18601341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41634907..41640750hg38UCSC Ensembl
Innerchr22:42030911..42036754hg19UCSC Ensembl
Innerchr22:40360857..40366700hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385844
hg195844
hg185844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2269336, nssv2269334, nssv2269337, nssv2269333, nssv2269330, nssv2269335, nssv2269332, nssv2269329, nssv2269328, nssv2269331
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesXRCC6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966111
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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