A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16036927



Internal ID19762181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65247184..65247185hg38UCSC Ensembl
chr2:65474318..65474319hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4467002
Supporting Variants
Samples
Known GenesACTR2
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)nssv16036927
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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