A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1991892



Internal ID17854724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75595308..75596136hg38UCSC Ensembl
Innerchr14:76061651..76062479hg19UCSC Ensembl
Innerchr14:75131404..75132232hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38829
hg19829
hg18829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976355
Supporting Variants
SamplesHGDP01029
Known GenesFLVCR2
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)nssv1991892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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