A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570775



Internal ID20300656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124046771..124046772hg38UCSC Ensembl
chrX:123180621..123180622hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg382383
hg192383
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16089113
Samples
Known GenesSTAG2
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)nsv4570775
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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