A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417190



Internal ID19848165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85714801..85827100hg38UCSC Ensembl
chr8:86727030..86839329hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38112300
hg19112300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14785444, nssv14785927, nssv14781251, nssv14787346, nssv14784285, nssv14772067, nssv14784848, nssv14789901, nssv14786933, nssv14777592, nssv14791210, nssv14780913, nssv14790955, nssv14774284
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesREXO1L1, REXO1L2P
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)nsv3417190
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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