A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416891



Internal ID19847867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128801964..128802261hg38UCSC Ensembl
chr9:131564243..131564540hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14727020, nssv14722658
SamplesHG02106, HG00268
Known GenesTBC1D13
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3416891
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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