A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215140



Internal ID20073436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102057222..102377222hg38UCSC Ensembl
chr12:102451000..102771000hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38320001
hg19320001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15812824
Samples
Known GenesCCDC53, NUP37, PARPBP, PMCH
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)nsv4215140
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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