A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3364352



Internal ID19795330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45594723..45594857hg38UCSC Ensembl
chr19:46097981..46098115hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14584118, nssv14587613, nssv14591279, nssv14584320, nssv14582389, nssv14574019
SamplesHG04217, HG02818, HX1, HG01352, NA19240, HG00733
Known GenesGPR4
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)nsv3364352
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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