A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558857



Internal ID19942053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124464170..124464171hg38UCSC Ensembl
chrX:123598020..123598021hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381083
hg191083
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16089126
Samples
Known GenesTENM1
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)nsv4558857
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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