A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975657



Internal ID20047597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102884801..102885212hg38UCSC Ensembl
chr4:103805958..103806369hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4110270
Supporting Variants
Samples
Known GenesCISD2, SLC9B1
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)nssv15975657
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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