A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238944



Internal ID21686453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104586512..104586512hg38UCSC Ensembl
chr7:104226959..104226959hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381749
hg191749
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730443
Supporting Variants
Samples
Known GenesLHFPL3
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)nssv17238944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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