A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988586



Internal ID19713840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:78101965..78693232hg38UCSC Ensembl
chrX:77357462..77948729hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38591268
hg19591268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4038989
Supporting Variants
Samples
Known GenesCYSLTR1, PGK1, TAF9B, ZCCHC5
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)nssv15988586
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000048


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