A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346430



Internal ID19777408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20506781..20506781hg38UCSC Ensembl
chr14:20974940..20974940hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14557637, nssv14563348, nssv14563912, nssv14561607, nssv14570463, nssv14553114, nssv14562392, nssv14564893
SamplesHG02106, CHM1, HG00268, HX1, HG02059, HG01352, NA19240, HG00733
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)nsv3346430
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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