A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3350092



Internal ID19434384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39956273..39956273hg38UCSC Ensembl
chr17:38112526..38112526hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14577619, nssv14588460, nssv14579804, nssv14588076, nssv14581507, nssv14584601, nssv14575258
SamplesCHM13, HG02106, HG00268, HG01352, NA19434, HG00733, HG00514
Known Genes
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)nsv3350092
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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