A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3339234



Internal ID19770212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55258099..55258099hg38UCSC Ensembl
chr16:55292011..55292011hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381419
hg191419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14576431
SamplesNA12878
Known Genes
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)nsv3339234
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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