A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704961



Internal ID21731282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30289477..30289477hg38UCSC Ensembl
chr21:31661795..31661795hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17201025
Samples
Known GenesKRTAP25-1
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)nsv5704961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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