A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987040



Internal ID19712294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:6812933..7185372hg38UCSC Ensembl
chrX:6730974..7103413hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38372440
hg19372440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4047540
Supporting Variants
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)nssv15987040
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001848


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer