A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825914



Internal ID19551314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43879196..43882919hg38UCSC Ensembl
chr15:44171394..44175117hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg383724
hg193724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4233178
Supporting Variants
Samples
Known GenesFRMD5
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)nssv15825914
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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