A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4037852



Internal ID19820652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1256697..1356589hg38UCSC Ensembl
chrX:1375590..1475482hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3899893
hg1999893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2839n166
Supporting Variantsnssv15986702
Samples
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2
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)nsv4037852
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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