A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245255



Internal ID20094313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56626498..56683226hg38UCSC Ensembl
chr16:56660410..56717138hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3856729
hg1956729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15955531
Samples
Known GenesMT1A, MT1B, MT1DP, MT1E, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M, MT1X
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)nsv4245255
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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