A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1987198



Internal ID17801997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55413343..55414752hg38UCSC Ensembl
Innerchr14:55880061..55881470hg19UCSC Ensembl
Innerchr14:54949814..54951223hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983827
Supporting Variants
SamplesHGDP00778
Known GenesTBPL2
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)nssv1987198
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