A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962668



Internal ID19687922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57501368..57636676hg38UCSC Ensembl
chr19:58012736..58148044hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38135309
hg19135309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4264516
Supporting Variants
Samples
Known GenesZIK1, ZNF134, ZNF211, ZNF416, ZNF530, ZNF549, ZNF550, ZNF773
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)nssv15962668
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