A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15938993



Internal ID19664247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124908783..125146484hg38UCSC Ensembl
chr9:127671062..127908763hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38237702
hg19237702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4177929
Supporting Variants
Samples
Known GenesGOLGA1, SCAI
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)nssv15938993
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