A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15863030



Internal ID19588284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46155285..46682288hg38UCSC Ensembl
chr21:47575199..48102200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38527004
hg19527002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534682
Supporting Variants
Samples
Known GenesC21orf58, DIP2A, DIP2A-IT1, FTCD, LSS, MCM3AP, MCM3AP-AS1, PCNT, PRMT2, S100B, SPATC1L, YBEY
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)nssv15863030
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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