A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3355494



Internal ID19786472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50304343..50304343hg38UCSC Ensembl
chr17:48381704..48381704hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14574238, nssv14579786, nssv14583059
SamplesCHM13, HG04217, NA19434
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)nsv3355494
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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