A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3352367



Internal ID19436659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23280780..23280780hg38UCSC Ensembl
chr14:23749989..23749989hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14562691, nssv14559673, nssv14570603
SamplesHG02059, NA19434, HG00514
Known GenesHOMEZ
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)nsv3352367
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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