A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5569970



Internal ID21518333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171006248..171006307hg38UCSC Ensembl
chr3:170724037..170724096hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17124245
SamplesNA19238
Known GenesSLC2A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5569970
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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