A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3360454



Internal ID19444746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218333971..218333971hg38UCSC Ensembl
chr2:219198694..219198694hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14645349, nssv14652003, nssv14639187, nssv14644369, nssv14634663, nssv14639885, nssv14649469
SamplesCHM13, CHM1, HG00268, NA12878, NA19240, HG00733, HG00514
Known GenesPNKD
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)nsv3360454
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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