A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17120917



Internal ID21511477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43500221..43500271hg38UCSC Ensembl
chr22:43896101..43896151hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5599715
Supporting Variants
SamplesNA24385
Known GenesMPPED1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17120917
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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