A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4037364



Internal ID19820312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18716424..19501979hg38UCSC Ensembl
chrX:18734543..19520097hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38785556
hg19785555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987827
Samples
Known GenesGPR64, MAP3K15, PDHA1, PHKA2, PHKA2-AS1, PPEF1
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)nsv4037364
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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