A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3332709



Internal ID19763687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44663048..44663048hg38UCSC Ensembl
chr11:44684598..44684598hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14516790, nssv14524893, nssv14519416, nssv14517097, nssv14515368, nssv14520329, nssv14530968
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02059, NA19434
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)nsv3332709
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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