A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4062700



Internal ID20309614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62728561..62733866hg38UCSC Ensembl
chr2:62955696..62961001hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385306
hg195306
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969591
Samples
Known GenesEHBP1
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)nsv4062700
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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