A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947952



Internal ID19673206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58347608..58444766hg38UCSC Ensembl
chr10:60107368..60204526hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3897159
hg1997159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4191764
Supporting Variants
Samples
Known GenesTFAM, UBE2D1
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)nssv15947952
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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