A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4099916



Internal ID19990297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190519104..190527488hg38UCSC Ensembl
chr3:190236893..190245277hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388385
hg198385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15886446
Samples
Known GenesIL1RAP
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)nsv4099916
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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