A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334643



Internal ID19765621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122443413..122443529hg38UCSC Ensembl
chr12:122927960..122928076hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14550722
SamplesNA19240
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)nsv3334643
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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