A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2267920



Internal ID17803659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40105186..40108053hg38UCSC Ensembl
Innerchr22:40501190..40504057hg19UCSC Ensembl
Innerchr22:38831136..38834003hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382868
hg192868
hg182868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962795
Supporting Variants
SamplesHGDP00778
Known GenesTNRC6B
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)nssv2267920
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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