A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134866



Internal ID20015428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2179365..2331665hg38UCSC Ensembl
chr7:2219000..2371300hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38152301
hg19152301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15916639
Samples
Known GenesFTSJ2, MAD1L1, MIR6836, NUDT1, SNX8
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)nsv4134866
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