A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134682



Internal ID20015289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:783598..784094hg38UCSC Ensembl
chr7:823235..823731hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15917394
Samples
Known GenesHEATR2
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)nsv4134682
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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