A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320399



Internal ID19751377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149076701..149095200hg38UCSC Ensembl
chr1:148341395..148358675hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3818500
hg1917281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14474461, nssv14472599, nssv14475415, nssv14473532, nssv14483829, nssv14486120, nssv14476822, nssv14477952, nssv14475011, nssv14484714
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HG02059, HG01352, NA19240, HG00733, HG00514
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
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)nsv3320399
Frequency
Sample Size14
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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