A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4113609



Internal ID20347097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79079289..79094270hg38UCSC Ensembl
chr5:78375112..78390093hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3814982
hg1914982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977372
Samples
Known GenesBHMT2
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 ID32461652
Accession Number(s)nsv4113609
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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