A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112887



Internal ID21480935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28939055..28939164hg38UCSC Ensembl
chr2:29161921..29162030hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575486
Supporting Variants
SamplesHG03683
Known GenesWDR43
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112887
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