A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725778



Internal ID21752099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21502396..21502396hg38UCSC Ensembl
chr12:21655330..21655330hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383505
hg193505
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250165
Samples
Known GenesGOLT1B
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)nsv5725778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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