A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521672



Internal ID19905102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184175636..184175733hg38UCSC Ensembl
chr3:183893424..183893521hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15888530
Samples
Known GenesAP2M1
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)nsv4521672
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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