A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4516714



Internal ID19900144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:135365374..135760462hg38UCSC Ensembl
chrX:134499299..134929000hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38395089
hg19429702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944340
Samples
Known GenesCT45A1, CT45A2, CT45A3, CT45A4, DDX26B, LINC00086, LOC100506790
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)nsv4516714
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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