A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3363950



Internal ID19794928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40117179..40119393hg38UCSC Ensembl
chr19:40623086..40625300hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382215
hg192215
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814450, nssv14814053
SamplesHX1, NA19240
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)nsv3363950
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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