A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3362034



Internal ID19446326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41805988..41806128hg38UCSC Ensembl
chr21:43226148..43226288hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14667201, nssv14659627, nssv14664244, nssv14659416, nssv14666088, nssv14670792
SamplesHG02106, HG00268, HX1, HG01352, NA19240, HG00514
Known GenesPRDM15
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)nsv3362034
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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