A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3326384



Internal ID19757362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114787534..114787659hg38UCSC Ensembl
chr10:116547293..116547418hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14812759
SamplesHG00733
Known Genes
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)nsv3326384
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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