A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2266746



Internal ID17437938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39317249..39317855hg38UCSC Ensembl
Innerchr22:39713254..39713860hg19UCSC Ensembl
Innerchr22:38043200..38043806hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38607
hg19607
hg18607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964632
Supporting Variants
SamplesHGDP00665
Known GenesRPL3
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)nssv2266746
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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