A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4225944



Internal ID20081064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72930175..73244605hg38UCSC Ensembl
chr13:73504313..73818742hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38314431
hg19314430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954661
Samples
Known GenesKLF5, PIBF1
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)nsv4225944
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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