A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4561408



Internal ID20291291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123461062..123461063hg38UCSC Ensembl
chrX:122594913..122594914hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16089091
Samples
Known GenesGRIA3
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)nsv4561408
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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