A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15920147



Internal ID19992087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30924901..30929162hg38UCSC Ensembl
chr7:30964516..30968777hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg384262
hg194262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4140491
Supporting Variants
Samples
Known GenesAQP1
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)nssv15920147
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000784


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