A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15989230



Internal ID19714484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114510704..114761923hg38UCSC Ensembl
chrX:113745157..113996363hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38251220
hg19251207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4039299
Supporting Variants
Samples
Known GenesHTR2C, MIR1264, MIR1298, MIR1912, MIR764, SNORA35
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)nssv15989230
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000285


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