A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3378247



Internal ID19809225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219270702..219270702hg38UCSC Ensembl
chr2:220135424..220135424hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383083
hg193083
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14639096
SamplesHX1
Known GenesTUBA4B
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)nsv3378247
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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