A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114221



Internal ID21409786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42252913..42252989hg38UCSC Ensembl
chr2:42480053..42480129hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5584312
Supporting Variants
SamplesHG00512
Known GenesEML4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114221
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