A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3347909



Internal ID19778887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28888453..28888453hg38UCSC Ensembl
chr19:29379360..29379360hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14624753, nssv14626539, nssv14617548
SamplesHG02106, NA12878, HX1
Known Genes
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)nsv3347909
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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