A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1995492



Internal ID17838643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:89892086..89893124hg38UCSC Ensembl
Innerchr14:90358430..90359468hg19UCSC Ensembl
Innerchr14:89428183..89429221hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg381039
hg191039
hg181039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976364
Supporting Variants
SamplesHGDP00998
Known GenesEFCAB11
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)nssv1995492
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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