A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947074



Internal ID19672328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123870266..123875194hg38UCSC Ensembl
chrX:123004116..123009044hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg384929
hg194929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4516603
Supporting Variants
Samples
Known GenesXIAP
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)nssv15947074
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000369


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