A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4116519



Internal ID20002472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76534175..76619175hg38UCSC Ensembl
chr5:75830000..75915000hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3885001
hg1985001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15900572
Samples
Known GenesF2RL2, IQGAP2
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)nsv4116519
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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