A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3407834



Internal ID19492124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142985163..142985163hg38UCSC Ensembl
chr8:144066580..144066580hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14772588, nssv14777847, nssv14788216, nssv14775867, nssv14788331, nssv14782292, nssv14789423, nssv14772244, nssv14789699, nssv14778362, nssv14780198, nssv14789416, nssv14788551, nssv14780192
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesLOC100133669
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)nsv3407834
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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