A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690647



Internal ID21716968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56537688..56537688hg38UCSC Ensembl
chr1:57003360..57003360hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203628, nssv17215874
Samples
Known GenesPPAP2B
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)nsv5690647
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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