A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3374956



Internal ID19805934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43665714..43665714hg38UCSC Ensembl
chr19:44169866..44169866hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14630185, nssv14613148, nssv14612802, nssv14614906, nssv14629469, nssv14615584, nssv14613664, nssv14630544, nssv14630625, nssv14620978, nssv14631381, nssv14624682, nssv14621445
SamplesCHM13, HG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesPLAUR
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3374956
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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