A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3353803



Internal ID19784781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59946401..59959100hg38UCSC Ensembl
chr14:60413119..60425818hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3812700
hg1912700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14560026, nssv14561170
SamplesHG02106, HG00268
Known GenesLRRC9
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)nsv3353803
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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