A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719939



Internal ID21746260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50458488..50458488hg38UCSC Ensembl
chr17:48535849..48535849hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241258, nssv17238279
Samples
Known GenesACSF2
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)nsv5719939
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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