A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251170



Internal ID20098268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78095876..78099024hg38UCSC Ensembl
chr15:78388218..78391366hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg383149
hg193149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15824313
Samples
Known GenesSH2D7
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)nsv4251170
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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