A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3367882



Internal ID19452175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41805988..41806279hg38UCSC Ensembl
chr21:43226148..43226439hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14667739, nssv14666266, nssv14654591, nssv14667261, nssv14669202
SamplesHG02106, HG00268, HX1, HG01352, NA19434
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)nsv3367882
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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