A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036625



Internal ID19819786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17776880..18887882hg38UCSC Ensembl
chrX:17795000..18906000hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg381111003
hg191111001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987818
Samples
Known GenesBEND2, CDKL5, PPEF1, RAI2, RS1, SCML2
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)nsv4036625
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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