A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3341659



Internal ID19772637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39405880..39405880hg38UCSC Ensembl
chr14:39875084..39875084hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382993
hg192993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14560283, nssv14567864, nssv14565567, nssv14567408, nssv14568795, nssv14565529
SamplesCHM13, HG02106, NA12878, HG02059, NA19434, HG00733
Known GenesFBXO33
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3341659
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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