A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722385



Internal ID21748706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32975099..32975099hg38UCSC Ensembl
chr3:33016591..33016591hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238678
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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