A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3359416



Internal ID19443708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45472534..45472606hg38UCSC Ensembl
chr20:44101174..44101246hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14760375, nssv14768627
SamplesHG02818, NA19434
Known GenesWFDC2
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 L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3359416
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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