A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249988



Internal ID20097487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40742348..40742417hg38UCSC Ensembl
chr15:41034546..41034615hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15824050
Samples
Known GenesRMDN3
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)nsv4249988
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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