A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268418



Internal ID17387418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41069076..41077718hg38UCSC Ensembl
Innerchr22:41465080..41473722hg19UCSC Ensembl
Innerchr22:39795026..39803668hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg388643
hg198643
hg188643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979681
Supporting Variants
SamplesHGDP00456
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)nssv2268418
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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