A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402440



Internal ID19833417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:66082801..66099600hg38UCSC Ensembl
chr9:42421724..42438523hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3816800
hg1916800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14776395, nssv14776615, nssv14780863, nssv14786164
SamplesHG04217, HG02818, HG02059, NA19240
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)nsv3402440
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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