A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16044920



Internal ID19770174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51545152..51545153hg38UCSC Ensembl
chr3:51579168..51579169hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557579
Supporting Variants
Samples
Known GenesRAD54L2
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)nssv16044920
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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