A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14777927



Internal ID19321274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40274201..40296000hg38UCSC Ensembl
chr9:42419219..42441018hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3821800
hg1921800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3406142
Supporting Variants
SamplesHX1
Known Genes
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)nssv14777927
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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