A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15988145



Internal ID19713399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38626487..38772766hg38UCSC Ensembl
chrX:38485740..38632019hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38146280
hg19146280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035676
Supporting Variants
Samples
Known GenesTSPAN7
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)nssv15988145
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000618


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