A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14761699



Internal ID19619722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1840384..1840384hg38UCSC Ensembl
chr8:1788550..1788550hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3399586
Supporting Variants
SamplesHG02818
Known GenesARHGEF10
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)nssv14761699
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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