A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2254158



Internal ID17475370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18908034..18929580hg38UCSC Ensembl
Innerchr22:18895547..18917093hg19UCSC Ensembl
Innerchr22:17275547..17297093hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3821547
hg1921547
hg1821547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979632
Supporting Variants
SamplesHGDP00927
Known GenesDGCR6, PRODH
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)nssv2254158
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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