A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966045



Internal ID20037990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:960370..967120hg38UCSC Ensembl
chr1:895750..902500hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386751
hg196751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045512
Supporting Variants
Samples
Known GenesKLHL17, PLEKHN1
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)nssv15966045
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002234


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