A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333267



Internal ID19417559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46722034..46722034hg38UCSC Ensembl
chr11:46743584..46743584hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14515530, nssv14519048
SamplesCHM13, HG01352
Known GenesF2
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)nsv3333267
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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