A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065788



Internal ID20311853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71009820..71032070hg38UCSC Ensembl
chr2:71236950..71259200hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3822251
hg1922251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968520
Samples
Known GenesOR7E91P
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)nsv4065788
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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