A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946912



Internal ID19672167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116064037..116064105hg38UCSC Ensembl
chr10:117823548..117823616hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172561
Supporting Variants
Samples
Known GenesGFRA1
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)nssv15946912
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000282


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