A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408173



Internal ID19839149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66068801..66105500hg38UCSC Ensembl
chr9:42415764..42452524hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3836700
hg1936761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14786918, nssv14772481, nssv14780559, nssv14780855
SamplesHG04217, HG02818, HG02059, HG00733
Known Genes
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)nsv3408173
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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