A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320795



Internal ID19405086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184799724..184800045hg38UCSC Ensembl
chr1:184768858..184769179hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14486016, nssv14479363, nssv14477512
SamplesNA12878, HG02818, HG02059
Known GenesFAM129A
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3320795
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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