A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3379150



Internal ID19810128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181338301..181348300hg38UCSC Ensembl
chr5:180765302..180775301hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810000
hg1910000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14716669, nssv14724096, nssv14727844, nssv14725629
SamplesHG02106, HG01352, NA19434, 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)nsv3379150
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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