A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249807



Internal ID20444056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:44050637..44378113hg38UCSC Ensembl
chr15:44342835..44670311hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38327477
hg19327477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956468
Samples
Known GenesCASC4, FRMD5
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)nsv4249807
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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