A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251250



Internal ID20098321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92429903..92578169hg38UCSC Ensembl
chr15:92973133..93121399hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38148267
hg19148267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15827561
Samples
Known GenesC15orf32, LINC00930, ST8SIA2
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)nsv4251250
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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