A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4050822



Internal ID19829733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40514748..40631748hg38UCSC Ensembl
chrX:40374000..40491000hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38117001
hg19117001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15988165
Samples
Known GenesATP6AP2, CXorf38, MPC1L
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)nsv4050822
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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