A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15826995



Internal ID19552395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88884908..88890035hg38UCSC Ensembl
chr15:89428139..89433266hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg385128
hg195128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4237982
Supporting Variants
Samples
Known GenesHAPLN3
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)nssv15826995
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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