A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712224



Internal ID21738545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88541647..88541647hg38UCSC Ensembl
chr12:88935424..88935424hg19UCSC Ensembl
Cytoband12q21.32
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 Variantsnssv17230414, nssv17193038
Samples
Known GenesKITLG
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)nsv5712224
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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