A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675396



Internal ID21701717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168649025..168649025hg38UCSC Ensembl
chr4:169570176..169570176hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174934
Samples
Known GenesPALLD
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)nsv5675396
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