A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126739



Internal ID20009650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163403337..163477665hg38UCSC Ensembl
chr5:162830343..162904671hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3874329
hg1974329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977126
Samples
Known GenesCCNG1, HMMR, NUDCD2
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)nsv4126739
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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