A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3341275



Internal ID19772253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101932201..101979400hg38UCSC Ensembl
chr15:102472404..102519603hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3847200
hg1947200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14566672, nssv14568175, nssv14555649, nssv14564863, nssv14566075, nssv14568810, nssv14556283, nssv14568254, nssv14553681, nssv14552064, nssv14561278, nssv14564916, nssv14562236
SamplesCHM13, HG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesDDX11L9, FAM138E, MIR6859-1, MIR6859-2, WASH3P
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)nsv3341275
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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