A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4264976



Internal ID20107872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44165971..44175178hg38UCSC Ensembl
chr17:42243339..42252546hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389208
hg199208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958964
Samples
Known GenesASB16
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)nsv4264976
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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