A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373038



Internal ID19804016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125034193..125034193hg38UCSC Ensembl
chr3:124753037..124753037hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14680313, nssv14677477, nssv14681151, nssv14685156, nssv14682575
SamplesCHM13, CHM1, HG02818, HX1, HG01352
Known GenesHEG1
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)nsv3373038
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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