A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4069662



Internal ID20314664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98526071..98530067hg38UCSC Ensembl
chr2:99142534..99146530hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383997
hg193997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15872530
Samples
Known GenesINPP4A
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)nsv4069662
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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