A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3368493



Internal ID19799471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64011753..64012047hg38UCSC Ensembl
chr20:62643106..62643400hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14648518, nssv14645931, nssv14646485
SamplesHG02818, NA19240, HG00733
Known GenesPRPF6
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)nsv3368493
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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