A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348916



Internal ID19779895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:370395..370395hg38UCSC Ensembl
chr16:420395..420395hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14563050, nssv14567860, nssv14568400
SamplesHG04217, HG00268, HG01352
Known GenesMRPL28
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)nsv3348916
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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