A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15916606



Internal ID19988546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1778692..1819835hg38UCSC Ensembl
chr7:1818328..1859471hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3841144
hg1941144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4145054
Supporting Variants
Samples
Known GenesMAD1L1
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)nssv15916606
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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