A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2263191



Internal ID17768161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29399379..29423206hg38UCSC Ensembl
Innerchr22:29795368..29819195hg19UCSC Ensembl
Innerchr22:28125368..28149195hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3823828
hg1923828
hg1823828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964617
Supporting Variants
SamplesHGDP00542
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)nssv2263191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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