A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320972



Internal ID19405263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180301..194500hg38UCSC Ensembl
chr2:114347043..114359736hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3814200
hg1912694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14490244, nssv14484535, nssv14490164, nssv14476112, nssv14474253, nssv14482984, nssv14487950, nssv14481509, nssv14487954, nssv14474157, nssv14487638
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesDDX11L2, WASH2P
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)nsv3320972
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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