A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974268



Internal ID20046208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165098847..165257848hg38UCSC Ensembl
chr4:166019999..166179000hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38159002
hg19159002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522589
Supporting Variants
Samples
Known GenesKLHL2, TMEM192
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)nssv15974268
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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