A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095226



Internal ID20333520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181156844..181160913hg38UCSC Ensembl
chr3:180874632..180878701hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg384070
hg194070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15885755
Samples
Known GenesSOX2-OT
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4095226
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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