A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15871327



Internal ID19596581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135790662..135799286hg38UCSC Ensembl
chr2:136548232..136556856hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg388625
hg198625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074091
Supporting Variants
Samples
Known GenesLCT
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)nssv15871327
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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