A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3401748



Internal ID19832724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64361301..64381600hg38UCSC Ensembl
chr9:69373719..69394018hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3820300
hg1920300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14789090, nssv14790326, nssv14772576, nssv14788728, nssv14775130, nssv14779917, nssv14779784
SamplesHG02106, NA12878, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesANKRD20A4
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)nsv3401748
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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