A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575978



Internal ID21524412
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 StatusM
Merged Variants
Supporting Variantsnssv17107658
SamplesNA19238
Known GenesTMEM87B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575978
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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