A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980698



Internal ID19705952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6813377..7198913hg38UCSC Ensembl
chr7:6853008..7238544hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38385537
hg19385537
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4142392
Supporting Variants
Samples
Known GenesC1GALT1, CCZ1B, LOC100131257
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)nssv15980698
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