A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4137933



Internal ID20017641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139162643..139165510hg38UCSC Ensembl
chr6:139483780..139486647hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382868
hg192868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15916180
Samples
Known GenesHECA
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)nsv4137933
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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