A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3378678



Internal ID19809656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43873779..43873779hg38UCSC Ensembl
chr19:44377931..44377931hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381880
hg191880
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14630684
SamplesHG02818
Known GenesZNF404
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)nsv3378678
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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