A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15809132



Internal ID19534532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23575963..23599423hg38UCSC Ensembl
chr12:23728897..23752357hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3823461
hg1923461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201816
Supporting Variants
Samples
Known GenesSOX5
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)nssv15809132
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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