A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960055



Internal ID19685309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55405633..55405693hg38UCSC Ensembl
chr17:53482994..53483054hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4253123
Supporting Variants
Samples
Known GenesMMD
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)nssv15960055
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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