A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3368322



Internal ID19799300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188015038..188016975hg38UCSC Ensembl
chr3:187732826..187734763hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381938
hg191938
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14787221, nssv14789366, nssv14783676, nssv14788852, nssv14788479
SamplesNA12878, HX1, HG02059, HG01352, HG00733
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 L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3368322
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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