A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977058



Internal ID19702312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157102084..157111034hg38UCSC Ensembl
chr5:156529095..156538045hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg388951
hg198951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4127665
Supporting Variants
Samples
Known GenesHAVCR2
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)nssv15977058
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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