A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039506



Internal ID20168460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:150666694..150667582hg38UCSC Ensembl
chrX:149835167..149836055hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949183
Samples
Known GenesMTM1
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)nsv4039506
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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