A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344667



Internal ID19428959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22818820..22818820hg38UCSC Ensembl
chr16:22830141..22830141hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14589123, nssv14580297, nssv14581219, nssv14586015
SamplesHG04217, CHM1, HG00268, HG02059
Known GenesHS3ST2
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)nsv3344667
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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