A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689175



Internal ID21715496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63617069..63617069hg38UCSC Ensembl
chr1:64082740..64082740hg19UCSC Ensembl
Cytoband1p31.3
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 Variantsnssv17204623, nssv17230142
Samples
Known GenesPGM1
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)nsv5689175
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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