A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728216



Internal ID21754537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173123219..173123219hg38UCSC Ensembl
chr5:172550222..172550222hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244288
Samples
Known GenesCREBRF
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)nsv5728216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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