A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724227



Internal ID21750548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120238727..120238727hg38UCSC Ensembl
chrX:119372580..119372580hg19UCSC Ensembl
CytobandXq24
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 Variantsnssv17205450
Samples
Known GenesNKAPP1
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)nsv5724227
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