A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517571



Internal ID19901001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155704338..156004335hg38UCSC Ensembl
chrX:154933999..155234000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38299998
hg19300002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949956
Samples
Known GenesIL9R, SPRY3, VAMP7
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)nsv4517571
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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