A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530439



Internal ID19913869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:26645851..28320854hg38UCSC Ensembl
chr15:26890998..28566000hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg381675004
hg191675003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15825117
Samples
Known GenesGABRA5, GABRB3, GABRG3, HERC2, OCA2
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)nsv4530439
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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