A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4178660



Internal ID20393840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:9831134..9950875hg38UCSC Ensembl
chr9:9831134..9950875hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38119742
hg19119742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2690n166
Supporting Variantsnssv15939411
Samples
Known GenesPTPRD
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)nsv4178660
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