A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3340839



Internal ID19425131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:73690970..73690970hg38UCSC Ensembl
chr15:73983311..73983311hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14560544, nssv14564296, nssv14558955, nssv14571000, nssv14568575
SamplesCHM1, NA12878, HG02059, NA19240, HG00733
Known GenesCD276
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)nsv3340839
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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