A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1959716



Internal ID17731106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40791932..40795053hg38UCSC Ensembl
Innerchr13:41366068..41369189hg19UCSC Ensembl
Innerchr13:40264068..40267189hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383122
hg193122
hg183122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974081
Supporting Variants
SamplesHGDP00456
Known GenesSLC25A15
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)nssv1959716
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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