A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034651



Internal ID19818382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81175401..81283501hg38UCSC Ensembl
chrX:80430900..80539000hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38108101
hg19108101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944314
Samples
Known GenesHMGN5, SH3BGRL
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)nsv4034651
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer