A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3372984



Internal ID19803962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:61793827..61793827hg38UCSC Ensembl
chr20:60368883..60368883hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14650116
SamplesHG00514
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)nsv3372984
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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