A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4048042



Internal ID19827779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48634166..48818990hg38UCSC Ensembl
chrX:48492554..48677397hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38184825
hg19184844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988814
Samples
Known GenesGATA1, GLOD5, HDAC6, SUV39H1, WAS
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)nsv4048042
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