A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716593



Internal ID21742914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37460084..37460084hg38UCSC Ensembl
chr17:35820188..35820188hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381758
hg191758
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241104
Samples
Known GenesTADA2A
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)nsv5716593
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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