A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15869428



Internal ID19594682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69400656..69403663hg38UCSC Ensembl
chr2:69627788..69630795hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383008
hg193008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518585
Supporting Variants
Samples
Known GenesNFU1
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)nssv15869428
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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