A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3347758



Internal ID19778736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14694085..14694085hg38UCSC Ensembl
chr19:14804897..14804897hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14600952
SamplesNA12878
Known GenesZNF333
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)nsv3347758
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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