A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958216



Internal ID19683470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28189988..28448294hg38UCSC Ensembl
chr17:26517014..26775312hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38258307
hg19258299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243070
Supporting Variants
Samples
Known GenesIFT20, KRT18P55, MIR4723, NLK, POLDIP2, PPY2, PYY2, SARM1, SEBOX, SLC46A1, TMEM199, TMEM97, TNFAIP1, VTN
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)nssv15958216
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