A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957923



Internal ID20029863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45994634..46073634hg38UCSC Ensembl
chr17:44072000..44151000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3879001
hg1979001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4253669
Supporting Variants
Samples
Known GenesKANSL1, MAPT, STH
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)nssv15957923
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