A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975958



Internal ID19701212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122277519..122450869hg38UCSC Ensembl
chr5:121613214..121786564hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38173351
hg19173351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119001
Supporting Variants
Samples
Known GenesMGC32805, SNCAIP
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)nssv15975958
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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