A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3345183



Internal ID19776161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89934168..89934168hg38UCSC Ensembl
chr16:90000576..90000576hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14591408
SamplesHG00514
Known GenesTUBB3
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)nsv3345183
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer