A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1989366



Internal ID17860514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63734406..63736290hg38UCSC Ensembl
Innerchr14:64201124..64203008hg19UCSC Ensembl
Innerchr14:63270877..63272761hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381885
hg191885
hg181885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977476
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1989366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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