A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3354086



Internal ID19785064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77130405..77130405hg38UCSC Ensembl
chr18:74842361..74842361hg19UCSC Ensembl
Cytoband18q23
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 Variantsnssv14609800, nssv14610654
SamplesHG02818, NA19434
Known GenesMBP
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)nsv3354086
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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