A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1996054



Internal ID17881920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92025490..92028159hg38UCSC Ensembl
Innerchr14:92491834..92494503hg19UCSC Ensembl
Innerchr14:91561587..91564256hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382670
hg192670
hg182670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977498
Supporting Variants
SamplesHGDP01307
Known GenesTRIP11
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)nssv1996054
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