A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3357460



Internal ID19788438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41293511..41293578hg38UCSC Ensembl
chr15:41585709..41585776hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14535029, nssv14542922, nssv14532538
SamplesCHM1, NA12878, HG01352
Known GenesOIP5-AS1
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3357460
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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