A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15943755



Internal ID19669009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134386900..134389034hg38UCSC Ensembl
chrX:133520930..133523064hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4039164
Supporting Variants
Samples
Known GenesPHF6
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)nssv15943755
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000785


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