A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955822



Internal ID19681076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122293564..122521937hg38UCSC Ensembl
chr12:122778111..123006484hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38228374
hg19228374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4224905
Supporting Variants
Samples
Known GenesCLIP1, LOC100507066, RSRC2, ZCCHC8
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)nssv15955822
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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