A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249651



Internal ID21697160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:105411578..105411578hg38UCSC Ensembl
chr3:105130422..105130422hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722221
Supporting Variants
Samples
Known GenesALCAM
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)nssv17249651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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