A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712920



Internal ID21739241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85673692..85673692hg38UCSC Ensembl
chr15:86216923..86216923hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224330, nssv17198217
Samples
Known GenesAKAP13
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5712920
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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