A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241025



Internal ID21688534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126090353..126090353hg38UCSC Ensembl
chr10:127778922..127778922hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728802
Supporting Variants
Samples
Known GenesADAM12
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)nssv17241025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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