A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985855



Internal ID19711109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40991971..41164661hg38UCSC Ensembl
chr9:69065200..69238000hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38172691
hg19172801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175121
Supporting Variants
Samples
Known GenesCBWD6, FOXD4L6, LOC440896, PGM5P2
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)nssv15985855
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011449


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