A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15913512



Internal ID19638766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87486903..87488275hg38UCSC Ensembl
chr6:88196621..88197993hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4145259
Supporting Variants
Samples
Known GenesSLC35A1
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)nssv15913512
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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