A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727975



Internal ID21754296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778931..101778931hg38UCSC Ensembl
chr12:102172709..102172709hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381438
hg191438
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246205, nssv17252026
Samples
Known GenesGNPTAB
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)nsv5727975
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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