A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417640



Internal ID19848615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121826454..121826521hg38UCSC Ensembl
chr9:124588733..124588800hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14783264, nssv14780989, nssv14777533, nssv14784493, nssv14778048
SamplesHG04217, CHM1, HX1, NA19240, HG00514
Known GenesTTLL11
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)nsv3417640
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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