A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3342349



Internal ID19773327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4462583..4462583hg38UCSC Ensembl
chr17:4365878..4365878hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14588590, nssv14590911, nssv14577746, nssv14591230, nssv14588233, nssv14574505, nssv14582750, nssv14580352, nssv14587799, nssv14579398, nssv14577421, nssv14578622, nssv14591719, nssv14585024
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesSPNS3
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)nsv3342349
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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