A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955235



Internal ID19680489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101155020..101590222hg38UCSC Ensembl
chr12:101548798..101984000hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38435203
hg19435203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4530516
Supporting Variants
Samples
Known GenesARL1, SLC5A8, SPIC, UTP20
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)nssv15955235
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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