A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4274768



Internal ID20114104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29506442..29559268hg38UCSC Ensembl
chr22:29902431..29955257hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3852827
hg1952827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15862327
Samples
Known GenesNIPSNAP1, THOC5
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)nsv4274768
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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