A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4097367



Internal ID19988390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149332197..149332867hg38UCSC Ensembl
chr3:149049984..149050654hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15886050
Samples
Known GenesTM4SF18
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 ID12345678
Accession Number(s)nsv4097367
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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