A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15906808



Internal ID19632062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138271512..138272037hg38UCSC Ensembl
chr5:137607201..137607726hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522578
Supporting Variants
Samples
Known GenesGFRA3
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)nssv15906808
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0677


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