A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3359934



Internal ID19790912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43468159..43468159hg38UCSC Ensembl
chr21:44888039..44888039hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14655654, nssv14671316, nssv14660496
SamplesHG00268, HG02818, HG00514
Known GenesLINC00313
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)nsv3359934
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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