A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4225670



Internal ID20080876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60718215..60722054hg38UCSC Ensembl
chr14:61184933..61188772hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383840
hg193840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15821832
Samples
Known GenesSIX4
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)nsv4225670
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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