A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4045794



Internal ID20172823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70339916..70367704hg38UCSC Ensembl
chr1:70805599..70833387hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3827789
hg1927789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963444
Samples
Known GenesANKRD13C, HHLA3
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)nsv4045794
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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