A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3350973



Internal ID19781951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24108986..24108986hg38UCSC Ensembl
chr16:24120307..24120307hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14589526, nssv14572064
SamplesHG02106, CHM1
Known GenesPRKCB
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)nsv3350973
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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