A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391980



Internal ID19822957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23615396..23620378hg38UCSC Ensembl
chr4:23617019..23622001hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg384983
hg194983
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14789315
SamplesHG00514
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)nsv3391980
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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