A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1963968



Internal ID17481171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50361311..50366028hg38UCSC Ensembl
Innerchr13:50935447..50940164hg19UCSC Ensembl
Innerchr13:49833448..49838165hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg384718
hg194718
hg184718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976114
Supporting Variants
SamplesHGDP00998
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)nssv1963968
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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