A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563157



Internal ID19946360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:78319925..78319926hg38UCSC Ensembl
chrX:77575422..77575423hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16087634
Samples
Known GenesCYSLTR1
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)nsv4563157
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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