A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3377229



Internal ID19808207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63559473..63559593hg38UCSC Ensembl
chr20:62190826..62190946hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14651406, nssv14635535, nssv14646599, nssv14650204, nssv14651683, nssv14633662
SamplesHG04217, NA12878, HG02059, HG01352, NA19240, HG00514
Known GenesHELZ2
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)nsv3377229
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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