A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047031



Internal ID21956265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109382894..109382894hg38UCSC Ensembl
chrX:108626123..108626123hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17648423
Samples
Known GenesGUCY2F
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047031
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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