A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3371576



Internal ID19802555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45906710..45907145hg38UCSC Ensembl
chr20:44535349..44535784hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14598238, nssv14605576, nssv14594527, nssv14605577
SamplesCHM13, CHM1, HG00268, HG01352
Known GenesPLTP
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 Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3371576
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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