A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14814248



Internal ID19342823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58414008..58414134hg38UCSC Ensembl
chr20:56989064..56989190hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3368876
Supporting Variants
SamplesNA12878
Known GenesVAPB
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)nssv14814248
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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