A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4492078



Internal ID19875433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39580866..39580867hg38UCSC Ensembl
chr7:39620465..39620466hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16073480
Samples
Known GenesYAE1D1
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)nsv4492078
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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