A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3355394



Internal ID19786372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93768968..93769023hg38UCSC Ensembl
chr14:94235314..94235369hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14557403, nssv14556236, nssv14562167, nssv14570388, nssv14570871, nssv14558345, nssv14559030, nssv14564894, nssv14567638, nssv14558431, nssv14570078, nssv14570551, nssv14569817
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesPRIMA1
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)nsv3355394
Frequency
Sample Size14
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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