A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14772891



Internal ID19594010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33536201..33551300hg38UCSC Ensembl
chr9:33536199..33551298hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3815100
hg1915100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3409898
Supporting Variants
SamplesHG02106
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)nssv14772891
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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