A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3322606



Internal ID19753584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243183801..243195000hg38UCSC Ensembl
chr1:243347103..243358302hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3811200
hg1911200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14509964
SamplesNA19434
Known GenesCEP170
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)nsv3322606
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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