A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1983354



Internal ID17729834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34920690..34921555hg38UCSC Ensembl
Innerchr14:35389896..35390761hg19UCSC Ensembl
Innerchr14:34459647..34460512hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38866
hg19866
hg18866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977454
Supporting Variants
SamplesHGDP00456
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)nssv1983354
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