A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900586



Internal ID19972526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76841513..76850144hg38UCSC Ensembl
chr5:76137338..76145969hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg388632
hg198632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4116365
Supporting Variants
Samples
Known GenesS100Z
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)nssv15900586
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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