A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3362911



Internal ID19793889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39596407..39596407hg38UCSC Ensembl
chr22:39992412..39992412hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14656904, nssv14656207, nssv14653460, nssv14670209, nssv14660444, nssv14663447
SamplesHG02106, HG04217, HG02059, HG01352, HG00733, HG00514
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)nsv3362911
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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