A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1984790



Internal ID17865252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49585959..49587037hg38UCSC Ensembl
Innerchr14:50052677..50053755hg19UCSC Ensembl
Innerchr14:49122427..49123505hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381079
hg191079
hg181079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977464
Supporting Variants
SamplesHGDP01284
Known GenesRPS29
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)nssv1984790
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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