A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2254591



Internal ID17781866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20346736..20390455hg38UCSC Ensembl
Innerchr22:20694476..20744745hg19UCSC Ensembl
Innerchr22:19024476..19074745hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3843720
hg1950270
hg1850270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979639
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2254591
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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