A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3392490



Internal ID19823467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39705753..39705914hg38UCSC Ensembl
chr4:39707373..39707534hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14633835, nssv14649001, nssv14641645
SamplesCHM13, HG04217, HX1
Known GenesUBE2K
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)nsv3392490
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