A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973045



Internal ID19698299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56140803..56429781hg38UCSC Ensembl
chr4:57006969..57295947hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38288979
hg19288979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4104127
Supporting Variants
Samples
Known GenesAASDH, KIAA1211, PPAT
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)nssv15973045
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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