A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14503113



Internal ID19505140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240060354..240060354hg38UCSC Ensembl
chr1:240223654..240223654hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3322419
Supporting Variants
SamplesHG00733
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)nssv14503113
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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