A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14547448



Internal ID19109320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35826529..35826529hg38UCSC Ensembl
chr13:36400666..36400666hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3349382
Supporting Variants
SamplesHG00268
Known GenesDCLK1, MIR548F5
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)nssv14547448
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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