A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596610



Internal ID21545219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31521230..31521297hg38UCSC Ensembl
chr22:31917216..31917283hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131866
SamplesNA19238
Known GenesSFI1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596610
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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