A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252099



Internal ID20445574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29274290..29277388hg38UCSC Ensembl
chr17:27601308..27604406hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383099
hg193099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834337
Samples
Known GenesNUFIP2
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)nsv4252099
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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