A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2265147



Internal ID17789044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31557899..31560113hg38UCSC Ensembl
Innerchr22:31953885..31956099hg19UCSC Ensembl
Innerchr22:30283885..30286099hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382215
hg192215
hg182215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964622
Supporting Variants
SamplesHGDP00665
Known GenesSFI1
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)nssv2265147
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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