A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720101



Internal ID21746422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53826497..53826497hg38UCSC Ensembl
chr2:54053634..54053634hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236702
Samples
Known GenesGPR75-ASB3
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)nsv5720101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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