A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3359664



Internal ID19790642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46859346..46859346hg38UCSC Ensembl
chr22:47255242..47255242hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14655426, nssv14666904, nssv14658672
SamplesHG00268, HX1, NA19240
Known GenesTBC1D22A
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)nsv3359664
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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