A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3383298



Internal ID19814277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45789561..45789614hg38UCSC Ensembl
chr3:45831053..45831106hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14669439, nssv14658327, nssv14668711, nssv14672015
SamplesNA12878, HX1, HG02059, HG00514
Known GenesSLC6A20
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)nsv3383298
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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