A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3370607



Internal ID19801586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55078403..55078477hg38UCSC Ensembl
chr19:55589771..55589845hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14631566, nssv14616224, nssv14612204, nssv14619682
SamplesCHM13, HG02106, NA12878, HG00514
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)nsv3370607
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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