A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4048323



Internal ID20174597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155349511..155357636hg38UCSC Ensembl
chrX:154578825..154586950hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388126
hg198126
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786610, nssv15786606, nssv15786607, nssv15786604, nssv15786608, nssv15786609, nssv15786605
Samples
Known GenesTMLHE-AS1
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 ID32461652
Accession Number(s)nsv4048323
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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