A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249683



Internal ID20097297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4521610..4526134hg38UCSC Ensembl
chr16:4571611..4576135hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384525
hg194525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv848n166
Supporting Variantsnssv15827696
Samples
Known GenesCDIP1
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)nsv4249683
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer