A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3409242



Internal ID19840218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145027991..145027991hg38UCSC Ensembl
chr8:146253377..146253377hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382876
hg192876
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14782935, nssv14786817, nssv14779511, nssv14791686, nssv14787258, nssv14782752
SamplesCHM13, HG02106, HG04217, HG02059, NA19434, HG00733
Known Genes
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)nsv3409242
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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