A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4527749



Internal ID19911179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51191845..51195962hg38UCSC Ensembl
chr12:51585628..51589745hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384118
hg194118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15808694
Samples
Known GenesPOU6F1
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)nsv4527749
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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