A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3353375



Internal ID19784353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38037601..38075300hg38UCSC Ensembl
chr17:34726049..34757935hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3837700
hg1931887
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14575641, nssv14584244
SamplesHG02818, 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)nsv3353375
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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