A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373535



Internal ID19804513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200763928..200763928hg38UCSC Ensembl
chr2:201628651..201628651hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382418
hg192418
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14650935
SamplesNA19434
Known GenesAOX2P
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)nsv3373535
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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