A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964581



Internal ID18253132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17704456..17705826hg38UCSC Ensembl
Innerchr22:18187222..18188592hg19UCSC Ensembl
Innerchr22:16567222..16568592hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381371
hg191371
hg181371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2253968, nssv2253974, nssv2253977, nssv2253970, nssv2253971, nssv2253975, nssv2253973, nssv2253969, nssv2253972, nssv2253976
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBCL2L13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964581
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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