A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521245



Internal ID20251364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69853957..70201933hg38UCSC Ensembl
chr4:70719675..71067650hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38347977
hg19347976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974854
Samples
Known GenesC4orf40, CSN1S1, CSN1S2AP, CSN1S2BP, CSN2, HTN1, HTN3, ODAM, STATH, SULT1E1
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)nsv4521245
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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