A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680100



Internal ID21706421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162690653..162690653hg38UCSC Ensembl
chr1:162660443..162660443hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181348
Samples
Known GenesDDR2
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)nsv5680100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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