A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576066



Internal ID19959255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29823859..29823860hg38UCSC Ensembl
chr16:29835180..29835181hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16015789
Samples
Known GenesMVP
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)nsv4576066
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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