A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16036090



Internal ID19761344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44246424..44246425hg38UCSC Ensembl
chr22:44642304..44642305hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4502089
Supporting Variants
Samples
Known GenesKIAA1644
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)nssv16036090
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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