A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16077769



Internal ID19803029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141776456..141776457hg38UCSC Ensembl
chr7:141476256..141476257hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4547170
Supporting Variants
Samples
Known Genes
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)nssv16077769
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000969


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