A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3404884



Internal ID19835860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134867668..134867668hg38UCSC Ensembl
chr8:135879911..135879911hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14786964
SamplesHG02106
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)nsv3404884
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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