A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4171927



Internal ID20389039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40817191..40825372hg38UCSC Ensembl
chr8:40674710..40682891hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg388182
hg198182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2575n166
Supporting Variantsnssv15931227
Samples
Known GenesZMAT4
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)nsv4171927
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