A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14783056



Internal ID19123980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40237501..40316800hg38UCSC Ensembl
chr9:42382519..42461818hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3879300
hg1979300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3410901
Supporting Variants
SamplesHG00268
Known GenesANKRD20A2, ANKRD20A3
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)nssv14783056
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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