A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575220



Internal ID21523647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220743982..220744208hg38UCSC Ensembl
chr2:221608702..221608928hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111299
SamplesNA19650
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575220
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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