A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15814302



Internal ID19539702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122799897..122804943hg38UCSC Ensembl
chr12:123284444..123289490hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385047
hg195047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4530304
Supporting Variants
Samples
Known GenesCCDC62
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)nssv15814302
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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