A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3365801



Internal ID19796779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55078403..55078662hg38UCSC Ensembl
chr19:55589771..55590030hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14616828, nssv14623225
SamplesNA19434, HG00733
Known GenesEPS8L1
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)nsv3365801
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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