A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961140



Internal ID19686394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17262253..17300795hg38UCSC Ensembl
chr19:17373062..17411604hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3838543
hg1938543
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267793
Supporting Variants
Samples
Known GenesABHD8, ANKLE1, BABAM1, USHBP1
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)nssv15961140
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