A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333757



Internal ID19764735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9082988..9082988hg38UCSC Ensembl
chr11:9104535..9104535hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382259
hg192259
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14524416, nssv14530559, nssv14523730
SamplesHX1, HG02059, HG00514
Known GenesSCUBE2
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)nsv3333757
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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