A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3352486



Internal ID19783464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8343295..8344651hg38UCSC Ensembl
chr17:8246613..8247969hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14583491, nssv14588338, nssv14578441, nssv14574397, nssv14589612
SamplesHG02818, HG01352, NA19240, HG00733, HG00514
Known GenesODF4
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)nsv3352486
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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