A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405858



Internal ID19836834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40235101..40251500hg38UCSC Ensembl
chr9:42380119..42396518hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3816400
hg1916400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14790696
SamplesHG02818
Known GenesANKRD20A2, ANKRD20A3
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)nsv3405858
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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