A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4523856



Internal ID20253975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149875810..150129461hg38UCSC Ensembl
chr7:149572899..149826550hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38253652
hg19253652
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981550
Samples
Known GenesATP6V0E2
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 ID32461652
Accession Number(s)nsv4523856
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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