A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1974090



Internal ID17819762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:109421771..109425245hg38UCSC Ensembl
Innerchr13:110074118..110077592hg19UCSC Ensembl
Innerchr13:108872119..108875593hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg383475
hg193475
hg183475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983619
Supporting Variants
SamplesHGDP00927
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)nssv1974090
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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