A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15942025



Internal ID19667279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:7524257..8169559hg38UCSC Ensembl
chrX:7442298..8137600hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38645303
hg19695303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518052
Supporting Variants
Samples
Known GenesMIR651, PNPLA4, VCX
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)nssv15942025
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000277


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