A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3350488



Internal ID19781466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49468615..49468615hg38UCSC Ensembl
chr13:50042751..50042751hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14550054, nssv14540635, nssv14539438, nssv14534160, nssv14546648
SamplesCHM1, HG00268, NA12878, HG02818, HX1
Known GenesSETDB2
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)nsv3350488
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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