A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14658216



Internal ID19565362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39596337..39596337hg38UCSC Ensembl
chr22:39992342..39992342hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3376301
Supporting Variants
SamplesHG02059
Known GenesCACNA1I
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)nssv14658216
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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