A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3383549



Internal ID19467842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81432801..81432801hg38UCSC Ensembl
chr5:80728620..80728620hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14716130
SamplesNA19240
Known GenesRNU5D-1, RNU5E-1, SSBP2
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)nsv3383549
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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