A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14689148



Internal ID19361691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160409112..160409112hg38UCSC Ensembl
chr3:160126900..160126900hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3374452
Supporting Variants
SamplesNA19240
Known GenesSMC4
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)nssv14689148
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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