A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2254973



Internal ID17451963
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 StatusS
Merged Variantsnsv962752
Supporting Variants
SamplesHGDP00778
Known GenesMICAL3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2254973
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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