A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572611



Internal ID19955801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66511394..66511395hg38UCSC Ensembl
chr14:66978112..66978113hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16010077
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 ID12345678
Accession Number(s)nsv4572611
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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