A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1990983



Internal ID17803107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68338572..68339877hg38UCSC Ensembl
Innerchr14:68805289..68806594hg19UCSC Ensembl
Innerchr14:67875042..67876347hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381306
hg191306
hg181306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977482
Supporting Variants
SamplesHGDP00778
Known GenesRAD51B
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)nssv1990983
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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