A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3365379



Internal ID19796357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362784..193362784hg38UCSC Ensembl
chr3:193080573..193080573hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14681441, nssv14672712, nssv14689146, nssv14685233, nssv14683686, nssv14680717
SamplesHG02106, HG04217, HG00268, HX1, HG02059, HG00514
Known GenesATP13A5
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)nsv3365379
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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