A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703639



Internal ID21729960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24633403..24633403hg38UCSC Ensembl
chr14:25102609..25102609hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17195739
Samples
Known GenesGZMB
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)nsv5703639
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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