A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975011



Internal ID19700265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42570709..42939336hg38UCSC Ensembl
chr5:42570811..42939438hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38368628
hg19368628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112588
Supporting Variants
Samples
Known GenesCCDC152, GHR, SEPP1
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)nssv15975011
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