A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16002896



Internal ID19728150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89523405..89523406hg38UCSC Ensembl
chr12:89917182..89917183hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4505224
Supporting Variants
Samples
Known GenesGALNT4, POC1B, POC1B-GALNT4
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)nssv16002896
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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