A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366962



Internal ID19797940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19678341..19678419hg38UCSC Ensembl
chr20:19658985..19659063hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14813668, nssv14812822
SamplesHG02818, HG00733
Known GenesSLC24A3
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 SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3366962
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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