A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3378599



Internal ID19809577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44817900..44817900hg38UCSC Ensembl
chr21:46237815..46237815hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14662522, nssv14666549, nssv14664489, nssv14664323, nssv14652533, nssv14671079, nssv14656184, nssv14660649, nssv14668515, nssv14660890, nssv14658613, nssv14659077, nssv14659463, nssv14668713
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesSUMO3
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)nsv3378599
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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