A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947938



Internal ID19673192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47987500..48000466hg38UCSC Ensembl
chr10:49195536..49208500hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3812967
hg1912965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4186713
Supporting Variants
Samples
Known GenesFAM25C, FAM25G
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)nssv15947938
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.033727


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