A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3372217



Internal ID19456509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34849321..34849321hg38UCSC Ensembl
chr21:36221618..36221618hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14659931, nssv14665315, nssv14661848
SamplesCHM13, HG00268, HG00514
Known GenesRUNX1
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)nsv3372217
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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