A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039484



Internal ID20168446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19362782..19420082hg38UCSC Ensembl
chrX:19380900..19438200hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3857301
hg1957301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987840
Samples
Known GenesMAP3K15
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)nsv4039484
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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