A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3362258



Internal ID19446550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121907845..121907939hg38UCSC Ensembl
chr3:121626692..121626786hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14783860
SamplesNA12878
Known GenesSLC15A2
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
CommentsAbsence of a L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3362258
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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