A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343980



Internal ID19774958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112539839..112539839hg38UCSC Ensembl
chr13:113194153..113194153hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14535006, nssv14539127, nssv14533654, nssv14534173
SamplesCHM13, HG01352, NA19434, HG00514
Known GenesTUBGCP3
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)nsv3343980
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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