A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952288



Internal ID19677542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17061807..18487366hg38UCSC Ensembl
chr12:17214741..18640300hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381425560
hg191425560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204901
Supporting Variants
Samples
Known GenesMIR3974, PIK3C2G, RERGL
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)nssv15952288
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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