A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321220



Internal ID19752198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182451706..182451706hg38UCSC Ensembl
chr1:182420841..182420841hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14484484, nssv14472773, nssv14484073, nssv14486341
SamplesHG04217, CHM1, HX1, HG02059
Known GenesRGSL1
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)nsv3321220
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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