A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973379



Internal ID19698633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21567067..22635922hg38UCSC Ensembl
chr4:21568690..22637545hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381068856
hg191068856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094510
Supporting Variants
Samples
Known GenesGPR125, KCNIP4, KCNIP4-IT1, LOC100505912
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)nssv15973379
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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