A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1984151



Internal ID17852538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39154308..39158223hg38UCSC Ensembl
Innerchr14:39623512..39627427hg19UCSC Ensembl
Innerchr14:38693263..38697178hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg383916
hg193916
hg183916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977459
Supporting Variants
SamplesHGDP01029
Known GenesTRAPPC6B
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)nssv1984151
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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