A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344116



Internal ID19775094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36346301..36422900hg38UCSC Ensembl
chr17:34651510..34791459hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3876600
hg19139950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14589878, nssv14572454, nssv14576596
SamplesHG02106, HG02818, HG02059
Known GenesTBC1D3H
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)nsv3344116
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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