A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3410458



Internal ID19494748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22585636..22585636hg38UCSC Ensembl
chr8:22443149..22443149hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14760015, nssv14762507, nssv14755660, nssv14763473, nssv14755302, nssv14771983, nssv14759259, nssv14761819, nssv14762220, nssv14766610, nssv14770124, nssv14756783, nssv14752796
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, NA19434, NA19240, HG00733, HG00514
Known GenesPDLIM2
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)nsv3410458
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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