A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3411215



Internal ID19842191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80107189..80107428hg38UCSC Ensembl
chr8:81019424..81019663hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14766235
SamplesHG04217
Known GenesTPD52
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)nsv3411215
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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