A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375295



Internal ID19806273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46120127..46120127hg38UCSC Ensembl
chr21:47540041..47540041hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14670970, nssv14658783, nssv14670938, nssv14657281, nssv14670884, nssv14662618
SamplesHG02106, HG04217, HX1, HG01352, HG00733, HG00514
Known GenesCOL6A2
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)nsv3375295
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer