A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962752



Internal ID18251308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17993009..17994259hg38UCSC Ensembl
Innerchr22:18475775..18477025hg19UCSC Ensembl
Innerchr22:16855775..16857025hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381251
hg191251
hg181251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2254976, nssv2254974, nssv2254975, nssv2254978, nssv2254971, nssv2254972, nssv2254973, nssv2254980, nssv2254979, nssv2254977
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMICAL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962752
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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