A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366093



Internal ID19797071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218711871..218711871hg38UCSC Ensembl
chr2:219576594..219576594hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14642260, nssv14644913
SamplesNA12878, HG00733
Known GenesTTLL4
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)nsv3366093
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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