A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264196



Internal ID17440250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29441318..29441937hg38UCSC Ensembl
Innerchr22:29837307..29837926hg19UCSC Ensembl
Innerchr22:28167307..28167926hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38620
hg19620
hg18620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979667
Supporting Variants
SamplesHGDP00665
Known GenesRFPL1, RFPL1S
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)nssv2264196
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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