A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15901019



Internal ID19972959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61666825..61667493hg38UCSC Ensembl
chr5:60962652..60963320hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4130478
Supporting Variants
Samples
Known GenesC5orf64
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)nssv15901019
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000922


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