A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4238600



Internal ID20089884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:87572598..88094542hg38UCSC Ensembl
chr15:88115829..88637773hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38521945
hg19521945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826934
Samples
Known GenesLINC00052, NTRK3
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)nsv4238600
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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