A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4049329



Internal ID19828670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:131679655..131839248hg38UCSC Ensembl
chrX:130813669..130973276hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38159594
hg19159608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2932n166
Supporting Variantsnssv15989367
Samples
Known GenesLOC286467
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)nsv4049329
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