A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2861n166



Internal ID20168289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:7063816..7214692hg38UCSC Ensembl
chrX:6981857..7132733hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38150877
hg19150877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4036787, nsv4034462
Samples
Known GenesHDHD1, MIR4767
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)dgv2861n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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