A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408542



Internal ID19839518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123859927..123866008hg38UCSC Ensembl
chr8:124872167..124878248hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386082
hg196082
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14809478
SamplesHG02818
Known GenesFER1L6
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)nsv3408542
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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