A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3363593



Internal ID19794571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15505501..15611200hg38UCSC Ensembl
chr14:19354922..19474561hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38105700
hg19119640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14669366, nssv14652290, nssv14656435, nssv14654083, nssv14667714, nssv14670485, nssv14664398, nssv14662354, nssv14660459, nssv14657397
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesLOC642426, OR11H12
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)nsv3363593
Frequency
Sample Size14
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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