A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3319945



Internal ID19750923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149087164..149087164hg38UCSC Ensembl
chr1:148351795..148351795hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14483897, nssv14491969
SamplesCHM13, NA19240
Known GenesLOC101929780
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)nsv3319945
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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