A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241381



Internal ID21688890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:11427507..11427507hg38UCSC Ensembl
chr3:11468981..11468981hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715235
Supporting Variants
Samples
Known GenesATG7
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)nssv17241381
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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