A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333338



Internal ID19764316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:56703069..56703069hg38UCSC Ensembl
chr11:56470545..56470545hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3811069
hg1911069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14516563, nssv14528138, nssv14516752, nssv14523263, nssv14528991, nssv14528740, nssv14519071, nssv14530761, nssv14519724, nssv14514841, nssv14523568, nssv14519437, nssv14530691
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
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)nsv3333338
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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