A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15918044



Internal ID19643298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44808401..44814401hg38UCSC Ensembl
chr7:44848000..44854000hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4139766
Supporting Variants
Samples
Known Genes
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)nssv15918044
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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