A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567451



Internal ID21515788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199624894..199625342hg38UCSC Ensembl
chr2:200489617..200490065hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111351
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567451
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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