A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851895



Internal ID22035538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109421007..109421007hg38UCSC Ensembl
chrX:108664236..108664236hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259689
Supporting Variants
Samples
Known GenesGUCY2F
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851895
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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