A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557437



Internal ID19940626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69346962..69514777hg38UCSC Ensembl
chr12:69740742..69908557hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38167816
hg19167816
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787797
Samples
Known GenesFRS2, LYZ, YEATS4
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4557437
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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