A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720253



Internal ID21746574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149762388..149762388hg38UCSC Ensembl
chr3:149480175..149480175hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250998
Samples
Known GenesANKUB1
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)nsv5720253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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