A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241739



Internal ID21689248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135503577..135503577hg38UCSC Ensembl
chr6:135824715..135824715hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720911
Supporting Variants
Samples
Known GenesLINC00271
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)nssv17241739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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