A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15965557



Internal ID19690816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38183245..38236952hg38UCSC Ensembl
chr20:36811647..36865354hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3853708
hg1953708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4275821
Supporting Variants
Samples
Known GenesKIAA1755
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)nssv15965557
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