A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039498



Internal ID19821797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:132043185..132044487hg38UCSC Ensembl
chrX:131177213..131178515hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg381303
hg191303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947769
Samples
Known GenesMST4
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)nsv4039498
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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