A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17168806



Internal ID21448741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:97185527..97185527hg38UCSC Ensembl
chrX:96440526..96440526hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610362
Supporting Variants
SamplesHG00864
Known GenesDIAPH2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17168806
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