A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3365391



Internal ID19796369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239898899..239899277hg38UCSC Ensembl
chr2:240838316..240838694hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14651291, nssv14632465, nssv14646348, nssv14639378, nssv14644988, nssv14637598
SamplesCHM13, HG04217, NA12878, HG02818, HG01352, HG00733
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)nsv3365391
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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