A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695366



Internal ID21721687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32505924..32505924hg38UCSC Ensembl
chr12:32658858..32658858hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192776
Samples
Known GenesFGD4
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)nsv5695366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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