A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3377401



Internal ID19808379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130091233..130091233hg38UCSC Ensembl
chr3:129810076..129810076hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14689269, nssv14687332, nssv14676065, nssv14686243, nssv14677276, nssv14691099, nssv14679898, nssv14677040, nssv14688168, nssv14679666, nssv14686148
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesALG1L2
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)nsv3377401
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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