A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697997



Internal ID21724318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88185719..88185719hg38UCSC Ensembl
chr12:88579496..88579496hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193033, nssv17223605
Samples
Known GenesTMTC3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5697997
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer