A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4157601



Internal ID20378607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16721544..18016063hg38UCSC Ensembl
chr8:16579053..17873572hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381294520
hg191294520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983472
Samples
Known GenesCNOT7, FGF20, FGL1, MICU3, MTMR7, MTUS1, PCM1, PDGFRL, SLC7A2, VPS37A, ZDHHC2
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)nsv4157601
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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