A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333557



Internal ID19764535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72562941..72563001hg38UCSC Ensembl
chr11:72273985..72274045hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14734245, nssv14737254
SamplesHG02059, HG00733
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
CommentsAbsence of a L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3333557
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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