A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562550



Internal ID335502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152231615..152231666hg38UCSC Ensembl
chrX:151400087..151400138hg19UCSC Ensembl
CytobandXq28
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 Variantsnssv17738019
Samples
Known GenesGABRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562550
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