A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333462



Internal ID19764440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63559615..63559615hg38UCSC Ensembl
chr11:63327087..63327087hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384520
hg194520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14523062, nssv14517395, nssv14525143, nssv14514108
SamplesHG02059, HG01352, HG00733, HG00514
Known GenesHRASLS2
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)nsv3333462
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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