A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4124141



Internal ID20354488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60926948..61061095hg38UCSC Ensembl
chr5:60222775..60356922hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38134148
hg19134148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2010n166
Supporting Variantsnssv15900430
Samples
Known GenesERCC8, NDUFAF2
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)nsv4124141
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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