A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416583



Internal ID19847558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:61811001..61858500hg38UCSC Ensembl
chr9:44958294..44994652hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3847500
hg1936359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14790679, nssv14776265, nssv14777076, nssv14777618, nssv14777829, nssv14782647, nssv14776834, nssv14779468, nssv14789186, nssv14775068, nssv14788161, nssv14782246, nssv14788760, nssv14780332
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesFAM27C
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)nsv3416583
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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