A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976768



Internal ID20048708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61606865..61740695hg38UCSC Ensembl
chr5:60902692..61036522hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38133831
hg19133831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119683
Supporting Variants
Samples
Known GenesC5orf64, LOC100506526
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)nssv15976768
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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