A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947446



Internal ID19672700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68624914..68712958hg38UCSC Ensembl
chr11:68392382..68480426hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3888045
hg1988045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199876
Supporting Variants
Samples
Known GenesGAL, MTL5
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)nssv15947446
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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