A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5568477



Internal ID21516826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143921919..143922016hg38UCSC Ensembl
chr2:144679486..144679583hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108613
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5568477
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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