A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205402



Internal ID21652911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114890016..114890016hg38UCSC Ensembl
chrX:114124579..114124579hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715368
Supporting Variants
Samples
Known GenesHTR2C
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)nssv17205402
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