A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047414



Internal ID19827345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153888417..153908523hg38UCSC Ensembl
chrX:153153871..153173977hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3820107
hg1920107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990445
Samples
Known GenesARHGAP4, AVPR2
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)nsv4047414
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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