A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791725



Internal ID19863806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21625860..21626424hg38UCSC Ensembl
chrX:21643978..21644542hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4330683
Supporting Variants
Samples
Known GenesCNKSR2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15791725
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000277


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