A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4519624



Internal ID20249743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32557932..32731933hg38UCSC Ensembl
chr2:32782999..32957000hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38174002
hg19174002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967895
Samples
Known GenesBIRC6, MIR4765, TTC27
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)nsv4519624
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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