A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681987



Internal ID21708308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119919809..119919809hg38UCSC Ensembl
chr1:120462432..120462432hg19UCSC Ensembl
Cytoband1p12
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 Variantsnssv17178881
Samples
Known GenesNOTCH2
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)nsv5681987
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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