A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15889603



Internal ID19961543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39054802..39062634hg38UCSC Ensembl
chr4:39056422..39064254hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg387833
hg197833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094490
Supporting Variants
Samples
Known GenesKLHL5
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)nssv15889603
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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