A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3340268



Internal ID19424560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93357886..93357955hg38UCSC Ensembl
chr14:93824232..93824301hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14571110, nssv14567773, nssv14559096, nssv14554088, nssv14564266, nssv14564335, nssv14557772, nssv14569523, nssv14562106, nssv14562529
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG01352, NA19434, NA19240, HG00733
Known GenesUNC79
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)nsv3340268
Frequency
Sample Size14
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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