A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247352



Internal ID21694861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136548664..136548664hg38UCSC Ensembl
chr7:136233412..136233412hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722037
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)nssv17247352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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