A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240796



Internal ID21688305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7376107..7376107hg38UCSC Ensembl
chr6:7376340..7376340hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381905
hg191905
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721975
Supporting Variants
Samples
Known GenesCAGE1
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)nssv17240796
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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