A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952543



Internal ID19677797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87858717..88177584hg38UCSC Ensembl
chr14:88325061..88643928hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38318868
hg19318868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4212542
Supporting Variants
Samples
Known GenesGALC, GPR65, LINC01146
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)nssv15952543
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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