A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960069



Internal ID20032009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56980910..57005956hg38UCSC Ensembl
chr17:55058271..55083317hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3825047
hg1925047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4252918
Supporting Variants
Samples
Known GenesSCPEP1
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)nssv15960069
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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