A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3322993



Internal ID19753971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237591087..237591161hg38UCSC Ensembl
chr1:237754387..237754461hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14501851, nssv14508228, nssv14493826, nssv14506740, nssv14505997, nssv14495283
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG00733
Known GenesRYR2
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)nsv3322993
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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