A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039323



Internal ID19821684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56414565..57233325hg38UCSC Ensembl
chr1:56880237..57698998hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38818761
hg19818762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962567
Samples
Known GenesC1orf168, C8A, C8B, DAB1, PPAP2B, PRKAA2
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)nsv4039323
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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