A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348867



Internal ID19779846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77578795..77578795hg38UCSC Ensembl
chr14:78045138..78045138hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382624
hg192624
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14568860, nssv14561967, nssv14569030
SamplesHG04217, HG02818, NA19434
Known GenesSPTLC2
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)nsv3348867
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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