A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159187



Internal ID20033070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17716491..18142491hg38UCSC Ensembl
chr8:17574000..18000000hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38426001
hg19426001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15928834
Samples
Known GenesASAH1, FGL1, MTUS1, PCM1
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)nsv4159187
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