A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15874546



Internal ID19599800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187581288..188636045hg38UCSC Ensembl
chr2:188446015..189500772hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381054758
hg191054758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4084459
Supporting Variants
Samples
Known GenesGULP1, MIR561
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)nssv15874546
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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