A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975978



Internal ID19701232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124624239..124638245hg38UCSC Ensembl
chr5:123959932..123973938hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3814007
hg1914007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4116979
Supporting Variants
Samples
Known GenesZNF608
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)nssv15975978
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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