A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692129



Internal ID21718450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241608520..241608520hg38UCSC Ensembl
chr2:242547935..242547935hg19UCSC Ensembl
Cytoband2q37.3
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 Variantsnssv17232057
Samples
Known GenesTHAP4
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)nsv5692129
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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