A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14508258



Internal ID19086551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:10601..62800hg38UCSC Ensembl
chr10:60001..108740hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3852200
hg1948740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3326060
Supporting Variants
SamplesCHM13
Known GenesTUBB8
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)nssv14508258
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer