A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972821



Internal ID19698075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122770078..123082357hg38UCSC Ensembl
chr4:123691233..124003512hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38312280
hg19312280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4520922
Supporting Variants
Samples
Known GenesFGF2, NUDT6, SPATA5
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)nssv15972821
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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