A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16014978



Internal ID20086934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88491053..88491054hg38UCSC Ensembl
chr16:88557461..88557462hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4544274
Supporting Variants
Samples
Known GenesZFPM1
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)nssv16014978
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000187


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