A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16087985



Internal ID20159941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12222209..12222210hg38UCSC Ensembl
chrX:12240328..12240329hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4574726
Supporting Variants
Samples
Known GenesFRMPD4
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)nssv16087985
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006425


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