A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580181



Internal ID21528669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173024192..173024515hg38UCSC Ensembl
chr2:173888920..173889243hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110575
SamplesNA19650
Known GenesRAPGEF4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580181
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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