A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3414045



Internal ID19845022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33792601..33803400hg38UCSC Ensembl
chr9:33792599..33803398hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14788790, nssv14780929, nssv14782690, nssv14782445, nssv14782866, nssv14790529
SamplesHG02106, HG00268, NA12878, HG02818, HG02059, NA19434
Known GenesPRSS3
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)nsv3414045
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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