A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945329



Internal ID20017269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153979497..153987689hg38UCSC Ensembl
chrX:153244948..153253140hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388193
hg198193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4040927
Supporting Variants
Samples
Known GenesMIR3202-1, MIR3202-2, TMEM187
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)nssv15945329
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000101


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