A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14732465



Internal ID19213237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206641339..206642315hg38UCSC Ensembl
chr1:206814684..206815660hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38977
hg19977
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3322156
Supporting Variants
SamplesHG02059
Known GenesDYRK3
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)nssv14732465
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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