A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15940158



Internal ID19665412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:23366501..23368086hg38UCSC Ensembl
chrX:23384618..23386203hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg381586
hg191586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4041905
Supporting Variants
Samples
Known GenesPTCHD1
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)nssv15940158
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000739


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