A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14570332



Internal ID19682977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79620705..79620705hg38UCSC Ensembl
chr14:80087048..80087048hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3340526
Supporting Variants
SamplesNA12878
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)nssv14570332
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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