A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107659



Internal ID21493944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112113863..112114394hg38UCSC Ensembl
chr2:112871440..112871971hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574618
Supporting Variants
SamplesNA19238
Known GenesTMEM87B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107659
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