A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138193



Internal ID21445687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75626633..75626688hg38UCSC Ensembl
chr4:76551817..76551872hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5566681
Supporting Variants
SamplesHG00732
Known GenesCDKL2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138193
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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