A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3398202



Internal ID19829179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125028144..125028469hg38UCSC Ensembl
chr5:124363837..124364162hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14669886, nssv14664012, nssv14659512, nssv14659183
SamplesCHM13, HG02818, HG01352, NA19434
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3398202
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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