A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264904



Internal ID17508230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31107865..31113534hg38UCSC Ensembl
Innerchr22:31503851..31509520hg19UCSC Ensembl
Innerchr22:29833851..29839520hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg385670
hg195670
hg185670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964621
Supporting Variants
SamplesHGDP01029
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)nssv2264904
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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