A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107658



Internal ID21493925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112113863..112114090hg38UCSC Ensembl
chr2:112871440..112871667hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575978
Supporting Variants
SamplesNA19238
Known GenesTMEM87B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107658
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