A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3354266



Internal ID19785244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24030645..24031779hg38UCSC Ensembl
chr14:24499854..24500988hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14739074, nssv14735101, nssv14734141, nssv14741913
SamplesHG02059, HG01352, HG00733, HG00514
Known GenesDHRS4L1
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)nsv3354266
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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