A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3356304



Internal ID19787282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112282534..112282534hg38UCSC Ensembl
chr13:112936848..112936848hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14532091, nssv14542060
SamplesHG02106, HG00268
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)nsv3356304
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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