A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14552190



Internal ID19706766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79087945..79088548hg38UCSC Ensembl
chr14:79554288..79554891hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3341189
Supporting Variants
SamplesNA19240
Known GenesNRXN3
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)nssv14552190
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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