A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3409511



Internal ID19840487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138692271..138692271hg38UCSC Ensembl
chr8:139704514..139704514hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14789391, nssv14789418, nssv14779470, nssv14783108, nssv14786000, nssv14780322, nssv14772107, nssv14781763, nssv14774366, nssv14789273, nssv14783023, nssv14772651, nssv14791443, nssv14782403
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesCOL22A1
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)nsv3409511
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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