A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15803004



Internal ID19528404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61628600..61628676hg38UCSC Ensembl
chr11:61396072..61396148hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4527872
Supporting Variants
Samples
Known GenesRPLP0P2
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)nssv15803004
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002305


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