A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052989



Internal ID19831265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53731863..53790863hg38UCSC Ensembl
chr2:53959000..54018000hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3859001
hg1959001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15867650
Samples
Known GenesASB3, CHAC2, ERLEC1, GPR75-ASB3
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)nsv4052989
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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