A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575616



Internal ID19958805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37807986..37807987hg38UCSC Ensembl
chr22:38203993..38203994hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16034114
Samples
Known GenesGCAT
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)nsv4575616
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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