A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3353606



Internal ID19784584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17143737..17143793hg38UCSC Ensembl
chr16:17237594..17237650hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14570123, nssv14561756, nssv14553844, nssv14563835, nssv14564157, nssv14555678
SamplesCHM13, HG04217, HG02818, HG01352, NA19434, NA19240
Known GenesXYLT1
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)nsv3353606
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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