A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14548861



Internal ID19580718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83860130..83860130hg38UCSC Ensembl
chr13:84434265..84434265hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3357454
Supporting Variants
SamplesHG02106
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)nssv14548861
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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