A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14583293



Internal ID19674651
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 StatusS
Merged Variantsnsv3343285
Supporting Variants
SamplesNA12878
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)nssv14583293
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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