A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555428



Internal ID328584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79790978..79791029hg38UCSC Ensembl
chrX:79046475..79046526hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740968
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555428
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