A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343140



Internal ID19774118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40374557..40374557hg38UCSC Ensembl
chr15:40666758..40666758hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14559321, nssv14571318, nssv14568835, nssv14565443, nssv14568090
SamplesCHM13, HG02106, HG04217, HX1, HG02059
Known Genes
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)nsv3343140
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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