A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14680904



Internal ID19655383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188849333..188849333hg38UCSC Ensembl
chr3:188567121..188567121hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3371284
Supporting Variants
SamplesHX1
Known GenesLPP
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)nssv14680904
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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