A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4088283



Internal ID19981648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233061676..233070636hg38UCSC Ensembl
chr2:233926386..233935346hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388961
hg198961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15877732
Samples
Known GenesINPP5D
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 ID12345678
Accession Number(s)nsv4088283
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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