A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17211728



Internal ID21659237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:16736742..16736742hg38UCSC Ensembl
chr4:16738365..16738365hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692126
Supporting Variants
Samples
Known GenesLDB2
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)nssv17211728
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