A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730923



Internal ID21757244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5676417..5676417hg38UCSC Ensembl
chr6:5676650..5676650hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247234
Samples
Known GenesFARS2
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)nsv5730923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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