A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159538



Internal ID20380014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148276926..148286180hg38UCSC Ensembl
chr7:147974018..147983272hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg389255
hg199255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15924847
Samples
Known GenesCNTNAP2, MIR548T
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)nsv4159538
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