A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221624



Internal ID20424714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66788650..66797166hg38UCSC Ensembl
chr14:67255368..67263884hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388517
hg198517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15821632
Samples
Known GenesGPHN
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)nsv4221624
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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