A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4291531



Internal ID20183482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:25415723..25422012hg38UCSC Ensembl
chr21:26788035..26794324hg19UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg386290
hg196290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15860882
Samples
Known GenesLINC00158
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)nsv4291531
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