A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3358402



Internal ID19789380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36319101..36332900hg38UCSC Ensembl
chr17:36339588..36353381hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3813800
hg1913794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14579244
SamplesHG00733
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
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)nsv3358402
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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