A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718071



Internal ID21744392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36334578..36334578hg38UCSC Ensembl
chrX:36352693..36352693hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228447, nssv17204526
Samples
Known GenesCXorf30
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)nsv5718071
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer