A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14790250



Internal ID19278245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68299401..68342300hg38UCSC Ensembl
chr9:70914317..70957216hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3842900
hg1942900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3408814
Supporting Variants
SamplesHG02818
Known GenesCBWD3, FOXD4L3
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)nssv14790250
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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