A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334186



Internal ID19765164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:89285201..89309400hg38UCSC Ensembl
chr11:89018369..89042568hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3824200
hg1924200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14530086, nssv14531933
SamplesHG04217, NA19434
Known GenesTYR
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)nsv3334186
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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