A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3407280



Internal ID19838256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33537701..33576100hg38UCSC Ensembl
chr9:33537699..33576098hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3838400
hg1938400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14791121, nssv14779187, nssv14782459, nssv14773922, nssv14781194, nssv14775586, nssv14778440, nssv14791444, nssv14783058, nssv14784076, nssv14786088
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesANKRD18B
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)nsv3407280
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer