A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977988



Internal ID19703242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10440767..10542767hg38UCSC Ensembl
chr6:10441000..10543000hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38102001
hg19102001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4122987
Supporting Variants
Samples
Known GenesGCNT2
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)nssv15977988
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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