A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1993119



Internal ID17816694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81032535..81033949hg38UCSC Ensembl
Innerchr14:81498879..81500293hg19UCSC Ensembl
Innerchr14:80568632..80570046hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381415
hg191415
hg181415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974354
Supporting Variants
SamplesHGDP00927
Known GenesTSHR
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)nssv1993119
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer