A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2260842



Internal ID17887052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23614284..23646204hg38UCSC Ensembl
Innerchr22:23956471..23988391hg19UCSC Ensembl
Innerchr22:22286471..22318391hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3831921
hg1931921
hg1831921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964606
Supporting Variants
SamplesHGDP01307
Known GenesC22orf43, GUSBP11
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)nssv2260842
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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