A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14712065



Internal ID19745317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179135052..179135052hg38UCSC Ensembl
chr5:178562053..178562053hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3380875
Supporting Variants
SamplesNA19434
Known GenesADAMTS2
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)nssv14712065
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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