A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719847



Internal ID21746168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25575604..25575604hg38UCSC Ensembl
chr20:25556240..25556240hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249675, nssv17238669
Samples
Known GenesNINL
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)nsv5719847
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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