A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15793173



Internal ID19865256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:26442180..26452084hg38UCSC Ensembl
chr10:26731109..26741013hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg389905
hg199905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4186895
Supporting Variants
Samples
Known GenesAPBB1IP
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 ID32461652
Accession Number(s)nssv15793173
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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