A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039015



Internal ID20168112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:10585060..10590310hg38UCSC Ensembl
chrX:10553100..10558350hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15940764
Samples
Known GenesMID1
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 ID32461652
Accession Number(s)nsv4039015
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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