A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3352141



Internal ID19436433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4714564..4714663hg38UCSC Ensembl
chr17:4617859..4617958hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14578633, nssv14590344, nssv14574594, nssv14591067, nssv14582631, nssv14584027, nssv14577184, nssv14574084, nssv14574312, nssv14577969, nssv14589003
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG02818, HX1, HG01352, NA19240, HG00733, HG00514
Known GenesARRB2
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)nsv3352141
Frequency
Sample Size14
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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