A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977337



Internal ID20049277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76294451..76317314hg38UCSC Ensembl
chr5:75590276..75613139hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3822864
hg1922864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4114431
Supporting Variants
Samples
Known GenesSV2C
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 ID32461652
Accession Number(s)nssv15977337
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