A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3369209



Internal ID19800188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61273529..61273529hg38UCSC Ensembl
chr20:59848585..59848585hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14644462, nssv14634230, nssv14640048, nssv14647921, nssv14632908, nssv14643191, nssv14635129, nssv14647988, nssv14638216, nssv14645219, nssv14645610, nssv14649599, nssv14645837, nssv14633281
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesCDH4
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)nsv3369209
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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