A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15795126



Internal ID19867212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45141552..45166552hg38UCSC Ensembl
chr10:45637000..45662000hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3825001
hg1925001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4181250
Supporting Variants
Samples
Known GenesANKRD30BP3, MIR3156-1, RSU1P2
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)nssv15795126
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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