A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4239831



Internal ID20090747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21141679..21379679hg38UCSC Ensembl
chr16:21153000..21391000hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38238001
hg19238001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955508
Samples
Known GenesANKS4B, CRYM, CRYM-AS1, DNAH3, SNX29P1, TMEM159, ZP2
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)nsv4239831
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