A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17166588



Internal ID21453330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24611105..24611105hg38UCSC Ensembl
chrX:24629222..24629222hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg381975
hg191975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611854
Supporting Variants
SamplesHG02011
Known GenesPCYT1B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17166588
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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