A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240136



Internal ID21687645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90717990..90717990hg38UCSC Ensembl
chr6:91427709..91427709hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381269
hg191269
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728815
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)nssv17240136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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