A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035190



Internal ID20165437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148883631..148884489hg38UCSC Ensembl
chrX:147965161..147966019hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948578
Samples
Known GenesAFF2
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)nsv4035190
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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