A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405186



Internal ID19836162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:106977213..106979771hg38UCSC Ensembl
chr9:109739494..109742052hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg382559
hg192559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14790256
SamplesNA19434
Known GenesMIR548Q, ZNF462
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)nsv3405186
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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