A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2257598



Internal ID17821602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21399168..21448483hg38UCSC Ensembl
Innerchr22:21753457..21802772hg19UCSC Ensembl
Innerchr22:20083457..20132772hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3849316
hg1949316
hg1849316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962766
Supporting Variants
SamplesHGDP00927
Known GenesHIC2
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)nssv2257598
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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