A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3357143



Internal ID19788121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18196943..18196943hg38UCSC Ensembl
chrUn_gl000212:25695..25695hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14535158, nssv14547658, nssv14532096, nssv14544279, nssv14546494
SamplesHG02106, HG04217, CHM1, NA19434, HG00733
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)nsv3357143
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer