A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251622



Internal ID20098559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63052912..63053008hg38UCSC Ensembl
chr15:63345111..63345207hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826578
Samples
Known GenesTPM1
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)nsv4251622
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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