A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16005103



Internal ID20077059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51748785..51748786hg38UCSC Ensembl
chr13:52322921..52322922hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4548718
Supporting Variants
Samples
Known GenesWDFY2
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 ID32461652
Accession Number(s)nssv16005103
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008854


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