A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373722



Internal ID19804700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38189080..38189080hg38UCSC Ensembl
chr22:38585087..38585087hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14654661, nssv14656641, nssv14652984, nssv14653880
SamplesHG04217, NA12878, 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)nsv3373722
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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