A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595871



Internal ID21544478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31591768..31593026hg38UCSC Ensembl
chr22:31987754..31989012hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381259
hg191259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137078
SamplesHG00732
Known GenesSFI1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595871
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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