A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2266549



Internal ID17383358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32190542..32194436hg38UCSC Ensembl
Innerchr22:32586529..32590423hg19UCSC Ensembl
Innerchr22:30916529..30920423hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383895
hg193895
hg183895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966105
Supporting Variants
SamplesHGDP00456
Known GenesRFPL2
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)nssv2266549
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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