A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334067



Internal ID19765045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69110997..69110997hg38UCSC Ensembl
chr11:68878465..68878465hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14517496, nssv14521858, nssv14512364, nssv14517998, nssv14524382, nssv14517902, nssv14529306, nssv14517351, nssv14522785, nssv14522961, nssv14527668, nssv14528521, nssv14514450
SamplesCHM13, HG02106, HG04217, CHM1, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
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)nsv3334067
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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