A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375070



Internal ID19806048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4036157..4036157hg38UCSC Ensembl
chr19:4036155..4036155hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14610647, nssv14599881, nssv14592756, nssv14602687, nssv14605412
SamplesCHM13, CHM1, HG00268, HX1, HG00733
Known GenesPIAS4
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)nsv3375070
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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