A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15905836



Internal ID19977776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126578308..126584308hg38UCSC Ensembl
chr5:125914000..125920000hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4127893
Supporting Variants
Samples
Known GenesALDH7A1
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)nssv15905836
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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