A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15808689



Internal ID19880775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51132301..51132371hg38UCSC Ensembl
chr12:51526084..51526154hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4527807
Supporting Variants
Samples
Known GenesTFCP2
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 ID32461652
Accession Number(s)nssv15808689
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006567


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