A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346126



Internal ID19777104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87332694..87332694hg38UCSC Ensembl
chr16:87366300..87366300hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14576142, nssv14579688, nssv14584736
SamplesNA12878, HG02818, NA19434
Known GenesFBXO31
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)nsv3346126
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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