A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375315



Internal ID19806293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:106111530..106111530hg38UCSC Ensembl
chr3:105830377..105830377hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14675151, nssv14679088, nssv14677006, nssv14687639, nssv14686811, nssv14689182
SamplesHG00268, NA12878, HX1, HG02059, NA19240, HG00514
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)nsv3375315
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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