A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3354858



Internal ID19785836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90495859..90495960hg38UCSC Ensembl
chr13:91148113..91148214hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14548129, nssv14549879, nssv14544494, nssv14544336, nssv14541406
SamplesCHM13, HG02106, CHM1, HG02818, HG02059
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)nsv3354858
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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