A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221424



Internal ID20077877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124775595..124839806hg38UCSC Ensembl
chr12:125260141..125324352hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3864212
hg1964212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950598
Samples
Known GenesSCARB1
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)nsv4221424
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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