A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15890409



Internal ID19615663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52549560..52825491hg38UCSC Ensembl
chr4:53415726..53691658hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38275932
hg19275933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105180
Supporting Variants
Samples
Known GenesDANCR, ERVMER34-1, LOC152578, MIR4449, SNORA26, USP46
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)nssv15890409
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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