A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3393342



Internal ID19824319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77420371..77420371hg38UCSC Ensembl
chr5:76716196..76716196hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14693807, nssv14702545, nssv14698763, nssv14696722
SamplesCHM13, HG02106, HG00268, HG00514
Known GenesPDE8B
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)nsv3393342
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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