A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15874447



Internal ID19599701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200316822..200321144hg38UCSC Ensembl
chr2:201181545..201185867hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384323
hg194323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4080267
Supporting Variants
Samples
Known GenesSPATS2L
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)nssv15874447
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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