A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321737



Internal ID19752715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206123453..206123453hg38UCSC Ensembl
chr1:206217878..206217878hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14480208, nssv14482245, nssv14472797, nssv14490665
SamplesCHM13, HG04217, HG00268, HG02059
Known Genes
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)nsv3321737
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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