A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14790435



Internal ID19624914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:101358930..101358930hg38UCSC Ensembl
chr9:104121212..104121212hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg389562
hg199562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3415192
Supporting Variants
SamplesHG02818
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)nssv14790435
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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