A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240813



Internal ID20438071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88681248..88747248hg38UCSC Ensembl
chr16:88747656..88813656hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15831519
Samples
Known GenesCTU2, LOC100289580, MIR4722, PIEZO1, RNF166, SNAI3, SNAI3-AS1
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)nsv4240813
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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