A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042728



Internal ID19824026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:102631541..102680212hg38UCSC Ensembl
chrX:101886469..101935140hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3848672
hg1948672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988649
Samples
Known GenesARMCX5-GPRASP2, GPRASP1
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)nsv4042728
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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