A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348115



Internal ID19779093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68496001..68496001hg38UCSC Ensembl
chr17:66492142..66492142hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14584687, nssv14578422, nssv14578384, nssv14582769, nssv14577984, nssv14587445, nssv14576969, nssv14586088, nssv14584380, nssv14577949, nssv14574043
SamplesCHM13, HG04217, CHM1, HG00268, HG02818, HX1, HG02059, NA19434, NA19240, HG00733, HG00514
Known GenesPRKAR1A
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)nsv3348115
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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