A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3358450



Internal ID19442742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16686401..16698500hg38UCSC Ensembl
chr17:16589715..16601814hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3812100
hg1912100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14583681, nssv14591702, nssv14576980, nssv14577235, nssv14584249, nssv14577658
SamplesHG02106, HG04217, HG00268, HG02059, HG01352, NA19434
Known GenesCCDC144A
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)nsv3358450
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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