A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3345791



Internal ID19776769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822374..64822374hg38UCSC Ensembl
chr14:65289092..65289092hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14566721, nssv14556808, nssv14568608, nssv14563464, nssv14556311, nssv14562136, nssv14564327, nssv14562046, nssv14558384, nssv14563975, nssv14561000, nssv14561367, nssv14561990, nssv14560876
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesSPTB
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)nsv3345791
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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