A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247655



Internal ID21695164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21284059..21284059hg38UCSC Ensembl
chr4:21285682..21285682hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723221
Supporting Variants
Samples
Known GenesKCNIP4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17247655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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