A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343285



Internal ID19774263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38946734..38946734hg38UCSC Ensembl
chr17:37102987..37102987hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14586396, nssv14586445, nssv14581345, nssv14583293
SamplesNA12878, HX1, NA19240, HG00514
Known GenesFBXO47
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)nsv3343285
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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