A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3394310



Internal ID19825287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40562292..40562292hg38UCSC Ensembl
chr3:40603783..40603783hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14669047
SamplesHG04217
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)nsv3394310
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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