A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373697



Internal ID19457989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32814325..32814325hg38UCSC Ensembl
chr22:33210311..33210311hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14659310, nssv14654363, nssv14652444, nssv14653947, nssv14652588, nssv14656345, nssv14667983
SamplesCHM13, HG04217, HG02818, HX1, HG02059, HG01352, NA19240
Known GenesSYN3, TIMP3
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)nsv3373697
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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