A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373201



Internal ID19804179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45224517..45224517hg38UCSC Ensembl
chr21:46644432..46644432hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14652920, nssv14658309
SamplesHG04217, NA12878
Known GenesADARB1
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)nsv3373201
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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