A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3378143



Internal ID19809121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42324113..42324113hg38UCSC Ensembl
chr22:42720119..42720119hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14662122, nssv14667217, nssv14660430, nssv14659523, nssv14661506
SamplesCHM13, HG00268, HX1, HG02059, NA19240
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)nsv3378143
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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