A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041065



Internal ID20169534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11273994..11276647hg38UCSC Ensembl
chrX:11292114..11294767hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382654
hg192654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15940795
Samples
Known GenesARHGAP6
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)nsv4041065
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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