A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17119395



Internal ID21438648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44928812..44928812hg38UCSC Ensembl
chr21:46348727..46348727hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665348
Supporting Variants
SamplesHG00732
Known GenesITGB2, ITGB2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17119395
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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