A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3363285



Internal ID19794263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189285937..189287396hg38UCSC Ensembl
chr3:189003726..189005185hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14673237
SamplesHG01352
Known GenesTPRG1
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)nsv3363285
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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