A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14640903



Internal ID19462216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31689270..31689270hg38UCSC Ensembl
chr20:30277073..30277073hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38370
hg19370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3364875
Supporting Variants
SamplesHG00268
Known GenesBCL2L1
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)nssv14640903
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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