A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1961233



Internal ID17763337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40812362..40921073hg38UCSC Ensembl
Innerchr13:41386498..41495209hg19UCSC Ensembl
Innerchr13:40284498..40393209hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38108712
hg19108712
hg18108712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974083
Supporting Variants
SamplesHGDP00542
Known GenesSLC25A15, SUGT1P3, TPTE2P5
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)nssv1961233
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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