A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3358748



Internal ID19789726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71769026..71769026hg38UCSC Ensembl
chr15:72061365..72061365hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14563746
SamplesNA19240
Known GenesTHSD4
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)nsv3358748
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