A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17121457



Internal ID21488647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49815954..49816019hg38UCSC Ensembl
chr22:50209602..50209667hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5597996
Supporting Variants
SamplesNA18939
Known GenesBRD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17121457
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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