A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4523332



Internal ID19906762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54276701..54406702hg38UCSC Ensembl
chr6:54141499..54271500hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38130002
hg19130002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978987
Samples
Known GenesTINAG
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)nsv4523332
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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