A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375071



Internal ID19806049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45229189..45229238hg38UCSC Ensembl
chr19:45732447..45732496hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14628508, nssv14618266, nssv14624843
SamplesHG02818, NA19434, HG00733
Known GenesEXOC3L2
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)nsv3375071
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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