A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15884958



Internal ID19956898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168590576..168630655hg38UCSC Ensembl
chr3:168308364..168348443hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3840080
hg1940080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4095736
Supporting Variants
Samples
Known GenesEGFEM1P
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)nssv15884958
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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