A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716512



Internal ID21742833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128271061..128271061hg38UCSC Ensembl
chr4:129192216..129192216hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238202
Samples
Known GenesPGRMC2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716512
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