A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243297



Internal ID20093002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74826647..74875676hg38UCSC Ensembl
chr15:75118988..75168017hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3849030
hg1949030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826192
Samples
Known GenesCPLX3, MIR6882, SCAMP2, ULK3
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)nsv4243297
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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