A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333944



Internal ID19764922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113361645..113361645hg38UCSC Ensembl
chr12:113799450..113799450hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14538880
SamplesNA12878
Known GenesPLBD2
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)nsv3333944
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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