A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192235



Internal ID21639744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51883789..51883789hg38UCSC Ensembl
chr12:52277573..52277573hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702389
Supporting Variants
Samples
Known Genes
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)nssv17192235
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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