A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4204611



Internal ID20065806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56345477..56348451hg38UCSC Ensembl
chr12:56739261..56742235hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382975
hg192975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15811250
Samples
Known GenesSTAT2
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)nsv4204611
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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