A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2252288



Internal ID17730478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16584265..16592836hg38UCSC Ensembl
Innerchr22:17065155..17073726hg19UCSC Ensembl
Innerchr22:15445155..15453726hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg388572
hg198572
hg188572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962744
Supporting Variants
SamplesHGDP00456
Known GenesCCT8L2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2252288
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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