A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3372473



Internal ID19803451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34034610..34034610hg38UCSC Ensembl
chr22:34430599..34430599hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14654569, nssv14668150, nssv14659005, nssv14659688, nssv14667944, nssv14669169, nssv14666640, nssv14662883
SamplesCHM13, HG02106, HG04217, CHM1, NA12878, HX1, HG02059, 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)nsv3372473
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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