A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191865



Internal ID21639374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:96024204..96024204hg38UCSC Ensembl
chr11:95757368..95757368hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700601
Supporting Variants
Samples
Known GenesMAML2
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)nssv17191865
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