A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15796739



Internal ID19868825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86837252..86838050hg38UCSC Ensembl
chr10:88597009..88597807hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4188117
Supporting Variants
Samples
Known GenesBMPR1A
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)nssv15796739
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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