A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14790256



Internal ID19729815
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 StatusS
Merged Variantsnsv3405186
Supporting Variants
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)nssv14790256
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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