A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4236610



Internal ID20435224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33712711..33857103hg38UCSC Ensembl
chr17:32039730..32184122hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38144393
hg19144393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958856
Samples
Known GenesASIC2
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)nsv4236610
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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