A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3355651



Internal ID19439943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73719829..73719829hg38UCSC Ensembl
chr14:74186532..74186532hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14563806, nssv14554760, nssv14565287, nssv14567359, nssv14571068
SamplesHG00268, NA12878, HX1, HG02059, HG00514
Known GenesELMSAN1
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)nsv3355651
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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