A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3341993



Internal ID19772971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101956701..101980600hg38UCSC Ensembl
chr15:102496904..102520803hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3823900
hg1923900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14568115, nssv14560332, nssv14567645, nssv14555631, nssv14566198, nssv14565376, nssv14558105
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG01352
Known GenesDDX11L9, 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)nsv3341993
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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