A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4277237



Internal ID20115183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34400045..34400798hg38UCSC Ensembl
chr20:32987851..32988604hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15858049
Samples
Known GenesITCH
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)nsv4277237
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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