A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693369



Internal ID21719690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196349068..196349068hg38UCSC Ensembl
chr1:196318198..196318198hg19UCSC Ensembl
Cytoband1q31.3
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 Variantsnssv17206960, nssv17187450
Samples
Known GenesKCNT2
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)nsv5693369
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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