A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16002323



Internal ID19727577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50338711..50338712hg38UCSC Ensembl
chr12:50732494..50732495hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4577807
Supporting Variants
Samples
Known GenesFAM186A
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)nssv16002323
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001567


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