A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4499528



Internal ID20229586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10812726..10812727hg38UCSC Ensembl
chr17:10716043..10716044hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16017237
Samples
Known GenesTMEM220-AS1
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)nsv4499528
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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