A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417440



Internal ID19848415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68377801..68412400hg38UCSC Ensembl
chr9:70992717..71027316hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3834600
hg1934600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14784505, nssv14781018, nssv14785034, nssv14788099
SamplesHG02106, HG02818, HX1, HG00733
Known GenesPGM5
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)nsv3417440
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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