A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243363



Internal ID20439730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:44026247..44103487hg38UCSC Ensembl
chr15:44318445..44395685hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3877241
hg1977241
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956467
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 ID32461652
Accession Number(s)nsv4243363
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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