A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15915041



Internal ID19986981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124149723..124206646hg38UCSC Ensembl
chr6:124470868..124527791hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3856924
hg1956924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4151559
Supporting Variants
Samples
Known GenesNKAIN2
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)nssv15915041
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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