A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4122452



Internal ID20006630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36972908..37085980hg38UCSC Ensembl
chr6:36940684..37053756hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38113073
hg19113073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978406
Samples
Known GenesFGD2, MTCH1
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)nsv4122452
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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