A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245169



Internal ID21692678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101899535..101899535hg38UCSC Ensembl
chr2:102515997..102515997hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385977
hg195977
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718542
Supporting Variants
Samples
Known Genes
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)nssv17245169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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