A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3353524



Internal ID19784502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24038003..24038073hg38UCSC Ensembl
chr14:24507212..24507282hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14559572, nssv14569629, nssv14571832
SamplesHG02059, HG01352, 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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3353524
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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