A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3379547



Internal ID19810525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13542055..13542214hg38UCSC Ensembl
chr6:13542287..13542446hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14725912, nssv14715937, nssv14724568, nssv14717983, nssv14725368, nssv14712546
SamplesHG02106, NA12878, HX1, HG02059, HG00733, HG00514
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)nsv3379547
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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