A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1969295



Internal ID17727352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75592240..75593723hg38UCSC Ensembl
Innerchr13:76166376..76167859hg19UCSC Ensembl
Innerchr13:75064377..75065860hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg381484
hg191484
hg181484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983604
Supporting Variants
SamplesHGDP00456
Known GenesUCHL3
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)nssv1969295
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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