A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15868276



Internal ID19940216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54601306..54605579hg38UCSC Ensembl
chr2:54828443..54832716hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg384274
hg194274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4064404
Supporting Variants
Samples
Known GenesSPTBN1
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)nssv15868276
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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