A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976989



Internal ID19702243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151242439..151254439hg38UCSC Ensembl
chr5:150622000..150634000hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117066
Supporting Variants
Samples
Known GenesGM2A
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)nssv15976989
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000093


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