A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4202448



Internal ID20410937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132566211..132577111hg38UCSC Ensembl
chr10:134379715..134390615hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3810901
hg1910901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798280
Samples
Known GenesINPP5A
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)nsv4202448
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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