A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243393



Internal ID20093064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19794780..19888976hg38UCSC Ensembl
chr16:19806102..19900298hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3894197
hg1994197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955483
Samples
Known GenesGPRC5B, IQCK
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)nsv4243393
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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