A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804555



Internal ID19876641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67251614..67251864hg38UCSC Ensembl
chr11:67019085..67019335hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4195279
Supporting Variants
Samples
Known GenesKDM2A
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)nssv15804555
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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