A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366980



Internal ID19797958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141665709..141665958hg38UCSC Ensembl
chr3:141384551..141384800hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14681543, nssv14678542, nssv14688455, nssv14676043, nssv14691440, nssv14672460, nssv14684893
SamplesHG00268, NA12878, HX1, HG02059, NA19434, HG00733, HG00514
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)nsv3366980
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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