A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3352370



Internal ID19783348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43416032..43416032hg38UCSC Ensembl
chr13:43990168..43990168hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14535084, nssv14538715, nssv14538037
SamplesHG02059, NA19434, NA19240
Known GenesENOX1
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)nsv3352370
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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